Linked Data
dbSNP Id:
rs12761450
gnomAD v2:
10-61885892-G-T
gnomAD v3:
10-60126134-G-T
gnomAD v4:
10-60126134-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.60126134G>T , CM000672.2:g.60126134G>T | GRCh38 |
| NC_000010.10:g.61885892G>T , CM000672.1:g.61885892G>T | GRCh37 |
| NC_000010.9:g.61555898G>T | NCBI36 |
| NG_029917.1:g.612393C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000467420.7:c.2799+8137C>A | ENSP00000423968.2:n.2799+8137C>A | |
| ENST00000503366.6:c.2844+8137C>A | ENSP00000425236.1:n.2844+8137C>A | |
| ENST00000280772.7:c.2841+8137C>A MANE Select | ENSP00000280772.1:n.2841+8137C>A | |
| ENST00000280772.6:c.2841+8137C>A | ENSP00000280772.1:n.2841+8137C>A | |
| ENST00000355288.6:c.243+8137C>A | ENSP00000347436.2:n.243+8137C>A | |
| ENST00000373815.5:c.216+8137C>A | ENSP00000362921.1:n.216+8137C>A | |
| ENST00000373827.6:c.2823+8137C>A | ENSP00000362933.2:n.2823+8137C>A | |
| ENST00000503366.5:c.2844+8137C>A | ENSP00000425236.1:n.2844+8137C>A | |
| ENST00000513049.5:c.216+8137C>A | ENSP00000426582.1:n.216+8137C>A | |
| ENST00000618080.4:c.239+8137C>A | ||
| ENST00000618374.4:c.243+8137C>A | ENSP00000479018.1:n.243+8137C>A | |
| ENST00000622427.4:c.*1407+8137C>A | ENSP00000483244.1:n.*1407+8137C>A | |
| NM_001149.3:c.243+8137C>A | NP_001140.2:n.243+8137C>A | |
| NM_001204403.1:c.2823+8137C>A | NP_001191332.1:n.2823+8137C>A | |
| NM_001204404.1:c.2844+8137C>A | NP_001191333.1:n.2844+8137C>A | |
| NM_020987.3:c.2841+8137C>A | NP_066267.2:n.2841+8137C>A | |
| XM_005269715.2:c.2895+8137C>A | XP_005269772.1:n.2895+8137C>A | |
| XM_005269716.2:c.2841+8137C>A | XP_005269773.1:n.2841+8137C>A | |
| XM_006717791.2:c.2907+8137C>A | XP_006717854.1:n.2907+8137C>A | |
| XM_006717793.2:c.2907+8137C>A | XP_006717856.1:n.2907+8137C>A | |
| XM_006717795.2:c.2907+8137C>A | XP_006717858.1:n.2907+8137C>A | |
| XM_006717796.2:c.2907+8137C>A | XP_006717859.1:n.2907+8137C>A | |
| XM_006717802.2:c.2907+8137C>A | XP_006717865.1:n.2907+8137C>A | |
| XM_011539700.1:c.2895+8137C>A | XP_011538002.1:n.2895+8137C>A | |
| XM_011539701.1:c.2889+8137C>A | XP_011538003.1:n.2889+8137C>A | |
| XM_011539702.1:c.2850+8137C>A | XP_011538004.1:n.2850+8137C>A | |
| XM_011539703.1:c.2829+8137C>A | XP_011538005.1:n.2829+8137C>A | |
| XM_011539704.1:c.2808+8137C>A | XP_011538006.1:n.2808+8137C>A | |
| XM_011539705.1:c.2808+8137C>A | XP_011538007.1:n.2808+8137C>A | |
| XM_011539706.1:c.2796+8137C>A | XP_011538008.1:n.2796+8137C>A | |
| XM_011539707.1:c.2907+8137C>A | XP_011538009.1:n.2907+8137C>A | |
| XM_011539708.1:c.2907+8137C>A | XP_011538010.1:n.2907+8137C>A | |
| XM_011539709.1:c.2907+8137C>A | XP_011538011.1:n.2907+8137C>A | |
| XM_011539710.1:c.2907+8137C>A | XP_011538012.1:n.2907+8137C>A | |
| XM_011539711.1:c.2907+8137C>A | XP_011538013.1:n.2907+8137C>A | |
| XM_011539712.1:c.2907+8137C>A | XP_011538014.1:n.2907+8137C>A | |
| XM_011539713.1:c.2907+8137C>A | XP_011538015.1:n.2907+8137C>A | |
| XM_011539714.1:c.255+8137C>A | XP_011538016.1:n.255+8137C>A | |
| XM_011539715.1:c.243+8137C>A | XP_011538017.1:n.243+8137C>A | |
| XM_011539716.1:c.2907+8137C>A | XP_011538018.1:n.2907+8137C>A | |
| XM_011539717.1:c.2895+8137C>A | XP_011538019.1:n.2895+8137C>A | |
| XM_011539718.1:c.2778+8137C>A | XP_011538020.1:n.2778+8137C>A | |
| NM_001320874.1:c.2841+8137C>A | NP_001307803.1:n.2841+8137C>A | |
| NM_020987.4:c.2841+8137C>A | NP_066267.2:n.2841+8137C>A | |
| XM_005269715.3:c.2895+8137C>A | XP_005269772.1:n.2895+8137C>A | |
| XM_006717796.3:c.2907+8137C>A | XP_006717859.1:n.2907+8137C>A | |
| XM_006717802.3:c.2907+8137C>A | XP_006717865.1:n.2907+8137C>A | |
| XM_011539708.2:c.2907+8137C>A | XP_011538010.1:n.2907+8137C>A | |
| XM_011539709.2:c.2907+8137C>A | XP_011538011.1:n.2907+8137C>A | |
| XM_017016110.1:c.2907+8137C>A | XP_016871599.1:n.2907+8137C>A | |
| XM_017016111.1:c.2895+8137C>A | XP_016871600.1:n.2895+8137C>A | |
| XM_017016112.1:c.2892+8137C>A | XP_016871601.1:n.2892+8137C>A | |
| XM_017016113.1:c.2907+8137C>A | XP_016871602.1:n.2907+8137C>A | |
| XM_017016114.1:c.2856+8137C>A | XP_016871603.1:n.2856+8137C>A | |
| XM_017016115.1:c.2829+8137C>A | XP_016871604.1:n.2829+8137C>A | |
| XM_017016116.1:c.2907+8137C>A | XP_016871605.1:n.2907+8137C>A | |
| XM_017016117.1:c.2907+8137C>A | XP_016871606.1:n.2907+8137C>A | |
| XM_017016118.1:c.2907+8137C>A | XP_016871607.1:n.2907+8137C>A | |
| XM_017016119.1:c.2907+8137C>A | XP_016871608.1:n.2907+8137C>A | |
| XM_017016120.1:c.2907+8137C>A | XP_016871609.1:n.2907+8137C>A | |
| XM_017016121.1:c.2907+8137C>A | XP_016871610.1:n.2907+8137C>A | |
| XM_017016122.1:c.2841+8137C>A | XP_016871611.1:n.2841+8137C>A | |
| XM_017016123.1:c.2907+8137C>A | XP_016871612.1:n.2907+8137C>A | |
| XM_017016124.1:c.2907+8137C>A | XP_016871613.1:n.2907+8137C>A | |
| XM_017016125.1:c.2880+8137C>A | XP_016871614.1:n.2880+8137C>A | |
| XM_017016126.1:c.2775+8137C>A | XP_016871615.1:n.2775+8137C>A | |
| XM_017016127.1:c.2775+8137C>A | XP_016871616.1:n.2775+8137C>A | |
| XM_017016128.1:c.2907+8137C>A | XP_016871617.1:n.2907+8137C>A | |
| XM_017016129.1:c.2907+8137C>A | XP_016871618.1:n.2907+8137C>A | |
| XM_017016130.1:c.2841+8137C>A | XP_016871619.1:n.2841+8137C>A | |
| XM_017016131.1:c.2826+8137C>A | XP_016871620.1:n.2826+8137C>A | |
| XM_017016132.1:c.2841+8137C>A | XP_016871621.1:n.2841+8137C>A | |
| XM_017016134.1:c.2775+8137C>A | XP_016871623.1:n.2775+8137C>A | |
| XM_017016136.1:c.2907+8137C>A | XP_016871625.1:n.2907+8137C>A | |
| XM_017016137.1:c.2907+8137C>A | XP_016871626.1:n.2907+8137C>A | |
| XM_017016138.1:c.2907+8137C>A | XP_016871627.1:n.2907+8137C>A | |
| XM_017016141.1:c.2775+8137C>A | XP_016871630.1:n.2775+8137C>A | |
| XM_024447953.1:c.2880+8137C>A | XP_024303721.1:n.2880+8137C>A | |
| XM_024447954.1:c.2853+8137C>A | XP_024303722.1:n.2853+8137C>A | |
| XM_024447955.1:c.2844+8137C>A | XP_024303723.1:n.2844+8137C>A | |
| XM_024447956.1:c.2841+8137C>A | XP_024303724.1:n.2841+8137C>A | |
| XM_024447957.1:c.2808+8137C>A | XP_024303725.1:n.2808+8137C>A | |
| XM_024447958.1:c.2790+8137C>A | XP_024303726.1:n.2790+8137C>A | |
| XM_024447959.1:c.2790+8137C>A | XP_024303727.1:n.2790+8137C>A | |
| XM_024447960.1:c.2778+8137C>A | XP_024303728.1:n.2778+8137C>A | |
| XM_024447961.1:c.2775+8137C>A | XP_024303729.1:n.2775+8137C>A | |
| XM_024447962.1:c.2907+8137C>A | XP_024303730.1:n.2907+8137C>A | |
| XM_024447963.1:c.2907+8137C>A | XP_024303731.1:n.2907+8137C>A | |
| XM_024447964.1:c.2907+8137C>A | XP_024303732.1:n.2907+8137C>A | |
| XM_024447965.1:c.2907+8137C>A | XP_024303733.1:n.2907+8137C>A | |
| NM_020987.5:c.2841+8137C>A MANE Select | NP_066267.2:n.2841+8137C>A | |
| NM_001204403.2:c.2823+8137C>A | NP_001191332.1:n.2823+8137C>A | |
| NM_001204404.2:c.2844+8137C>A | NP_001191333.1:n.2844+8137C>A | |
| NM_001320874.2:c.2841+8137C>A | NP_001307803.1:n.2841+8137C>A | |
| NM_001149.4:c.243+8137C>A | NP_001140.2:n.243+8137C>A |