Linked Data
dbSNP Id:
rs749990741
gnomAD v2:
10-61803066-T-C
gnomAD v3:
10-60043308-T-C
gnomAD v4:
10-60043308-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.60043308T>C , CM000672.2:g.60043308T>C | GRCh38 |
| NC_000010.10:g.61803066T>C , CM000672.1:g.61803066T>C | GRCh37 |
| NC_000010.9:g.61473072T>C | NCBI36 |
| NG_029917.1:g.695219A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000467420.7:c.5311-549A>G | ENSP00000423968.2:n.5311-549A>G | |
| ENST00000503366.6:c.5539-549A>G | ENSP00000425236.1:n.5539-549A>G | |
| ENST00000280772.7:c.13066-549A>G MANE Select | ENSP00000280772.1:n.13066-549A>G | |
| ENST00000280772.6:c.13066-549A>G | ENSP00000280772.1:n.13066-549A>G | |
| ENST00000355288.6:c.2938-549A>G | ENSP00000347436.2:n.2938-549A>G | |
| ENST00000373820.5:c.1312-549A>G | ENSP00000362926.1:n.1312-549A>G | |
| ENST00000373827.6:c.5518-549A>G | ENSP00000362933.2:n.5518-549A>G | |
| ENST00000480699.5:n.275-549A>G | ||
| ENST00000489505.2:n.1496A>G | ||
| ENST00000502769.5:c.433-549A>G | ENSP00000423057.1:n.433-549A>G | |
| ENST00000503366.5:c.5539-549A>G | ENSP00000425236.1:n.5539-549A>G | |
| ENST00000610321.4:c.4862-549A>G | ||
| ENST00000612776.4:c.471-552A>G | ||
| ENST00000616444.4:c.2852-549A>G | ||
| ENST00000617800.4:c.458-549A>G | ||
| ENST00000618374.4:c.*501-549A>G | ENSP00000479018.1:n.*501-549A>G | |
| NM_001149.3:c.2938-549A>G | NP_001140.2:n.2938-549A>G | |
| NM_001204403.1:c.5518-549A>G | NP_001191332.1:n.5518-549A>G | |
| NM_001204404.1:c.5539-549A>G | NP_001191333.1:n.5539-549A>G | |
| NM_020987.3:c.13066-549A>G | NP_066267.2:n.13066-549A>G | |
| XM_005269715.2:c.5590-549A>G | XP_005269772.1:n.5590-549A>G | |
| XM_005269716.2:c.5536-549A>G | XP_005269773.1:n.5536-549A>G | |
| XM_006717791.2:c.8494-552A>G | XP_006717854.1:n.8494-552A>G | |
| XM_006717793.2:c.8434-549A>G | XP_006717856.1:n.8434-549A>G | |
| XM_006717795.2:c.8263-552A>G | XP_006717858.1:n.8263-552A>G | |
| XM_006717796.2:c.8212-552A>G | XP_006717859.1:n.8212-552A>G | |
| XM_006717802.2:c.5629-549A>G | XP_006717865.1:n.5629-549A>G | |
| XM_011539700.1:c.8482-549A>G | XP_011538002.1:n.8482-549A>G | |
| XM_011539701.1:c.8476-549A>G | XP_011538003.1:n.8476-549A>G | |
| XM_011539702.1:c.8437-549A>G | XP_011538004.1:n.8437-549A>G | |
| XM_011539703.1:c.8416-549A>G | XP_011538005.1:n.8416-549A>G | |
| XM_011539704.1:c.8395-549A>G | XP_011538006.1:n.8395-549A>G | |
| XM_011539705.1:c.8395-549A>G | XP_011538007.1:n.8395-549A>G | |
| XM_011539706.1:c.8383-549A>G | XP_011538008.1:n.8383-549A>G | |
| XM_011539707.1:c.8263-549A>G | XP_011538009.1:n.8263-549A>G | |
| XM_011539708.1:c.8212-549A>G | XP_011538010.1:n.8212-549A>G | |
| XM_011539709.1:c.7903-549A>G | XP_011538011.1:n.7903-549A>G | |
| XM_011539710.1:c.5911-549A>G | XP_011538012.1:n.5911-549A>G | |
| XM_011539711.1:c.5884-549A>G | XP_011538013.1:n.5884-549A>G | |
| XM_011539712.1:c.5875-549A>G | XP_011538014.1:n.5875-549A>G | |
| XM_011539713.1:c.5848-549A>G | XP_011538015.1:n.5848-549A>G | |
| XM_011539714.1:c.5842-549A>G | XP_011538016.1:n.5842-549A>G | |
| XM_011539715.1:c.5830-549A>G | XP_011538017.1:n.5830-549A>G | |
| XM_011539716.1:c.5704-549A>G | XP_011538018.1:n.5704-549A>G | |
| XM_011539717.1:c.5563-549A>G | XP_011538019.1:n.5563-549A>G | |
| XM_011539718.1:c.5446-549A>G | XP_011538020.1:n.5446-549A>G | |
| NM_001320874.1:c.5536-549A>G | NP_001307803.1:n.5536-549A>G | |
| NM_020987.4:c.13066-549A>G | NP_066267.2:n.13066-549A>G | |
| XM_005269715.3:c.5590-549A>G | XP_005269772.1:n.5590-549A>G | |
| XM_006717796.3:c.8212-552A>G | XP_006717859.1:n.8212-552A>G | |
| XM_006717802.3:c.5629-549A>G | XP_006717865.1:n.5629-549A>G | |
| XM_011539708.2:c.8212-549A>G | XP_011538010.1:n.8212-549A>G | |
| XM_011539709.2:c.7903-549A>G | XP_011538011.1:n.7903-549A>G | |
| XM_017016110.1:c.13447-549A>G | XP_016871599.1:n.13447-549A>G | |
| XM_017016111.1:c.13435-549A>G | XP_016871600.1:n.13435-549A>G | |
| XM_017016112.1:c.13432-549A>G | XP_016871601.1:n.13432-549A>G | |
| XM_017016113.1:c.13420-549A>G | XP_016871602.1:n.13420-549A>G | |
| XM_017016114.1:c.13396-549A>G | XP_016871603.1:n.13396-549A>G | |
| XM_017016115.1:c.13369-549A>G | XP_016871604.1:n.13369-549A>G | |
| XM_017016116.1:c.13138-549A>G | XP_016871605.1:n.13138-549A>G | |
| XM_017016117.1:c.13138-552A>G | XP_016871606.1:n.13138-552A>G | |
| XM_017016118.1:c.12106-549A>G | XP_016871607.1:n.12106-549A>G | |
| XM_017016119.1:c.11797-549A>G | XP_016871608.1:n.11797-549A>G | |
| XM_017016120.1:c.11797-552A>G | XP_016871609.1:n.11797-552A>G | |
| XM_017016121.1:c.11770-549A>G | XP_016871610.1:n.11770-549A>G | |
| XM_017016122.1:c.8119-549A>G | XP_016871611.1:n.8119-549A>G | |
| XM_017016123.1:c.7903-552A>G | XP_016871612.1:n.7903-552A>G | |
| XM_017016124.1:c.7876-549A>G | XP_016871613.1:n.7876-549A>G | |
| XM_017016125.1:c.7876-552A>G | XP_016871614.1:n.7876-552A>G | |
| XM_017016126.1:c.7771-549A>G | XP_016871615.1:n.7771-549A>G | |
| XM_017016127.1:c.7744-549A>G | XP_016871616.1:n.7744-549A>G | |
| XM_017016128.1:c.5602-549A>G | XP_016871617.1:n.5602-549A>G | |
| XM_017016129.1:c.5602-552A>G | XP_016871618.1:n.5602-552A>G | |
| XM_017016130.1:c.5536-552A>G | XP_016871619.1:n.5536-552A>G | |
| XM_017016131.1:c.5521-549A>G | XP_016871620.1:n.5521-549A>G | |
| XM_017016132.1:c.5500-549A>G | XP_016871621.1:n.5500-549A>G | |
| XM_017016134.1:c.5470-549A>G | XP_016871623.1:n.5470-549A>G | |
| XM_017016136.1:c.5320-549A>G | XP_016871625.1:n.5320-549A>G | |
| XM_017016137.1:c.5293-549A>G | XP_016871626.1:n.5293-549A>G | |
| XM_017016138.1:c.5293-552A>G | XP_016871627.1:n.5293-552A>G | |
| XM_017016141.1:c.5188-549A>G | XP_016871630.1:n.5188-549A>G | |
| XM_024447953.1:c.13420-549A>G | XP_024303721.1:n.13420-549A>G | |
| XM_024447954.1:c.13393-549A>G | XP_024303722.1:n.13393-549A>G | |
| XM_024447955.1:c.13384-549A>G | XP_024303723.1:n.13384-549A>G | |
| XM_024447956.1:c.13381-549A>G | XP_024303724.1:n.13381-549A>G | |
| XM_024447957.1:c.13348-549A>G | XP_024303725.1:n.13348-549A>G | |
| XM_024447958.1:c.13330-549A>G | XP_024303726.1:n.13330-549A>G | |
| XM_024447959.1:c.13330-549A>G | XP_024303727.1:n.13330-549A>G | |
| XM_024447960.1:c.13318-549A>G | XP_024303728.1:n.13318-549A>G | |
| XM_024447961.1:c.13315-549A>G | XP_024303729.1:n.13315-549A>G | |
| XM_024447962.1:c.12346-549A>G | XP_024303730.1:n.12346-549A>G | |
| XM_024447963.1:c.8479-552A>G | XP_024303731.1:n.8479-552A>G | |
| XM_024447964.1:c.5833-549A>G | XP_024303732.1:n.5833-549A>G | |
| XM_024447965.1:c.5593-549A>G | XP_024303733.1:n.5593-549A>G | |
| NM_020987.5:c.13066-549A>G MANE Select | NP_066267.2:n.13066-549A>G | |
| NM_001204403.2:c.5518-549A>G | NP_001191332.1:n.5518-549A>G | |
| NM_001204404.2:c.5539-549A>G | NP_001191333.1:n.5539-549A>G | |
| NM_001320874.2:c.5536-549A>G | NP_001307803.1:n.5536-549A>G | |
| NM_001149.4:c.2938-549A>G | NP_001140.2:n.2938-549A>G |