Linked Data
dbSNP Id:
rs988520859
gnomAD v2:
10-61803074-C-T
gnomAD v3:
10-60043316-C-T
gnomAD v4:
10-60043316-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.60043316C>T , CM000672.2:g.60043316C>T | GRCh38 |
| NC_000010.10:g.61803074C>T , CM000672.1:g.61803074C>T | GRCh37 |
| NC_000010.9:g.61473080C>T | NCBI36 |
| NG_029917.1:g.695211G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000467420.7:c.5311-557G>A | ENSP00000423968.2:n.5311-557G>A | |
| ENST00000503366.6:c.5539-557G>A | ENSP00000425236.1:n.5539-557G>A | |
| ENST00000280772.7:c.13066-557G>A MANE Select | ENSP00000280772.1:n.13066-557G>A | |
| ENST00000280772.6:c.13066-557G>A | ENSP00000280772.1:n.13066-557G>A | |
| ENST00000355288.6:c.2938-557G>A | ENSP00000347436.2:n.2938-557G>A | |
| ENST00000373820.5:c.1312-557G>A | ENSP00000362926.1:n.1312-557G>A | |
| ENST00000373827.6:c.5518-557G>A | ENSP00000362933.2:n.5518-557G>A | |
| ENST00000480699.5:n.275-557G>A | ||
| ENST00000489505.2:n.1488G>A | ||
| ENST00000502769.5:c.433-557G>A | ENSP00000423057.1:n.433-557G>A | |
| ENST00000503366.5:c.5539-557G>A | ENSP00000425236.1:n.5539-557G>A | |
| ENST00000610321.4:c.4862-557G>A | ||
| ENST00000612776.4:c.471-560G>A | ||
| ENST00000616444.4:c.2852-557G>A | ||
| ENST00000617800.4:c.458-557G>A | ||
| ENST00000618374.4:c.*501-557G>A | ENSP00000479018.1:n.*501-557G>A | |
| NM_001149.3:c.2938-557G>A | NP_001140.2:n.2938-557G>A | |
| NM_001204403.1:c.5518-557G>A | NP_001191332.1:n.5518-557G>A | |
| NM_001204404.1:c.5539-557G>A | NP_001191333.1:n.5539-557G>A | |
| NM_020987.3:c.13066-557G>A | NP_066267.2:n.13066-557G>A | |
| XM_005269715.2:c.5590-557G>A | XP_005269772.1:n.5590-557G>A | |
| XM_005269716.2:c.5536-557G>A | XP_005269773.1:n.5536-557G>A | |
| XM_006717791.2:c.8494-560G>A | XP_006717854.1:n.8494-560G>A | |
| XM_006717793.2:c.8434-557G>A | XP_006717856.1:n.8434-557G>A | |
| XM_006717795.2:c.8263-560G>A | XP_006717858.1:n.8263-560G>A | |
| XM_006717796.2:c.8212-560G>A | XP_006717859.1:n.8212-560G>A | |
| XM_006717802.2:c.5629-557G>A | XP_006717865.1:n.5629-557G>A | |
| XM_011539700.1:c.8482-557G>A | XP_011538002.1:n.8482-557G>A | |
| XM_011539701.1:c.8476-557G>A | XP_011538003.1:n.8476-557G>A | |
| XM_011539702.1:c.8437-557G>A | XP_011538004.1:n.8437-557G>A | |
| XM_011539703.1:c.8416-557G>A | XP_011538005.1:n.8416-557G>A | |
| XM_011539704.1:c.8395-557G>A | XP_011538006.1:n.8395-557G>A | |
| XM_011539705.1:c.8395-557G>A | XP_011538007.1:n.8395-557G>A | |
| XM_011539706.1:c.8383-557G>A | XP_011538008.1:n.8383-557G>A | |
| XM_011539707.1:c.8263-557G>A | XP_011538009.1:n.8263-557G>A | |
| XM_011539708.1:c.8212-557G>A | XP_011538010.1:n.8212-557G>A | |
| XM_011539709.1:c.7903-557G>A | XP_011538011.1:n.7903-557G>A | |
| XM_011539710.1:c.5911-557G>A | XP_011538012.1:n.5911-557G>A | |
| XM_011539711.1:c.5884-557G>A | XP_011538013.1:n.5884-557G>A | |
| XM_011539712.1:c.5875-557G>A | XP_011538014.1:n.5875-557G>A | |
| XM_011539713.1:c.5848-557G>A | XP_011538015.1:n.5848-557G>A | |
| XM_011539714.1:c.5842-557G>A | XP_011538016.1:n.5842-557G>A | |
| XM_011539715.1:c.5830-557G>A | XP_011538017.1:n.5830-557G>A | |
| XM_011539716.1:c.5704-557G>A | XP_011538018.1:n.5704-557G>A | |
| XM_011539717.1:c.5563-557G>A | XP_011538019.1:n.5563-557G>A | |
| XM_011539718.1:c.5446-557G>A | XP_011538020.1:n.5446-557G>A | |
| NM_001320874.1:c.5536-557G>A | NP_001307803.1:n.5536-557G>A | |
| NM_020987.4:c.13066-557G>A | NP_066267.2:n.13066-557G>A | |
| XM_005269715.3:c.5590-557G>A | XP_005269772.1:n.5590-557G>A | |
| XM_006717796.3:c.8212-560G>A | XP_006717859.1:n.8212-560G>A | |
| XM_006717802.3:c.5629-557G>A | XP_006717865.1:n.5629-557G>A | |
| XM_011539708.2:c.8212-557G>A | XP_011538010.1:n.8212-557G>A | |
| XM_011539709.2:c.7903-557G>A | XP_011538011.1:n.7903-557G>A | |
| XM_017016110.1:c.13447-557G>A | XP_016871599.1:n.13447-557G>A | |
| XM_017016111.1:c.13435-557G>A | XP_016871600.1:n.13435-557G>A | |
| XM_017016112.1:c.13432-557G>A | XP_016871601.1:n.13432-557G>A | |
| XM_017016113.1:c.13420-557G>A | XP_016871602.1:n.13420-557G>A | |
| XM_017016114.1:c.13396-557G>A | XP_016871603.1:n.13396-557G>A | |
| XM_017016115.1:c.13369-557G>A | XP_016871604.1:n.13369-557G>A | |
| XM_017016116.1:c.13138-557G>A | XP_016871605.1:n.13138-557G>A | |
| XM_017016117.1:c.13138-560G>A | XP_016871606.1:n.13138-560G>A | |
| XM_017016118.1:c.12106-557G>A | XP_016871607.1:n.12106-557G>A | |
| XM_017016119.1:c.11797-557G>A | XP_016871608.1:n.11797-557G>A | |
| XM_017016120.1:c.11797-560G>A | XP_016871609.1:n.11797-560G>A | |
| XM_017016121.1:c.11770-557G>A | XP_016871610.1:n.11770-557G>A | |
| XM_017016122.1:c.8119-557G>A | XP_016871611.1:n.8119-557G>A | |
| XM_017016123.1:c.7903-560G>A | XP_016871612.1:n.7903-560G>A | |
| XM_017016124.1:c.7876-557G>A | XP_016871613.1:n.7876-557G>A | |
| XM_017016125.1:c.7876-560G>A | XP_016871614.1:n.7876-560G>A | |
| XM_017016126.1:c.7771-557G>A | XP_016871615.1:n.7771-557G>A | |
| XM_017016127.1:c.7744-557G>A | XP_016871616.1:n.7744-557G>A | |
| XM_017016128.1:c.5602-557G>A | XP_016871617.1:n.5602-557G>A | |
| XM_017016129.1:c.5602-560G>A | XP_016871618.1:n.5602-560G>A | |
| XM_017016130.1:c.5536-560G>A | XP_016871619.1:n.5536-560G>A | |
| XM_017016131.1:c.5521-557G>A | XP_016871620.1:n.5521-557G>A | |
| XM_017016132.1:c.5500-557G>A | XP_016871621.1:n.5500-557G>A | |
| XM_017016134.1:c.5470-557G>A | XP_016871623.1:n.5470-557G>A | |
| XM_017016136.1:c.5320-557G>A | XP_016871625.1:n.5320-557G>A | |
| XM_017016137.1:c.5293-557G>A | XP_016871626.1:n.5293-557G>A | |
| XM_017016138.1:c.5293-560G>A | XP_016871627.1:n.5293-560G>A | |
| XM_017016141.1:c.5188-557G>A | XP_016871630.1:n.5188-557G>A | |
| XM_024447953.1:c.13420-557G>A | XP_024303721.1:n.13420-557G>A | |
| XM_024447954.1:c.13393-557G>A | XP_024303722.1:n.13393-557G>A | |
| XM_024447955.1:c.13384-557G>A | XP_024303723.1:n.13384-557G>A | |
| XM_024447956.1:c.13381-557G>A | XP_024303724.1:n.13381-557G>A | |
| XM_024447957.1:c.13348-557G>A | XP_024303725.1:n.13348-557G>A | |
| XM_024447958.1:c.13330-557G>A | XP_024303726.1:n.13330-557G>A | |
| XM_024447959.1:c.13330-557G>A | XP_024303727.1:n.13330-557G>A | |
| XM_024447960.1:c.13318-557G>A | XP_024303728.1:n.13318-557G>A | |
| XM_024447961.1:c.13315-557G>A | XP_024303729.1:n.13315-557G>A | |
| XM_024447962.1:c.12346-557G>A | XP_024303730.1:n.12346-557G>A | |
| XM_024447963.1:c.8479-560G>A | XP_024303731.1:n.8479-560G>A | |
| XM_024447964.1:c.5833-557G>A | XP_024303732.1:n.5833-557G>A | |
| XM_024447965.1:c.5593-557G>A | XP_024303733.1:n.5593-557G>A | |
| NM_020987.5:c.13066-557G>A MANE Select | NP_066267.2:n.13066-557G>A | |
| NM_001204403.2:c.5518-557G>A | NP_001191332.1:n.5518-557G>A | |
| NM_001204404.2:c.5539-557G>A | NP_001191333.1:n.5539-557G>A | |
| NM_001320874.2:c.5536-557G>A | NP_001307803.1:n.5536-557G>A | |
| NM_001149.4:c.2938-557G>A | NP_001140.2:n.2938-557G>A |