Linked Data
dbSNP Id:
rs1777672
gnomAD v2:
13-36177819-G-A
gnomAD v3:
13-35603682-G-A
gnomAD v4:
13-35603682-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.35603682G>A , CM000675.2:g.35603682G>A | GRCh38 |
| NC_000013.10:g.36177819G>A , CM000675.1:g.36177819G>A | GRCh37 |
| NC_000013.9:g.35075819G>A | NCBI36 |
| NG_028156.1:g.666396G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379922.4:n.443-2744G>A | ||
| ENST00000400445.8:c.7297-2744G>A | ENSP00000383295.3:n.7297-2744G>A | |
| ENST00000537702.6:c.676-2744G>A | ENSP00000440233.1:n.676-2744G>A | |
| ENST00000629018.4:c.2941-2744G>A | ENSP00000486239.3:n.2941-2744G>A | |
| ENST00000685163.1:n.1120-2744G>A | ||
| ENST00000685329.1:c.676-2744G>A | ENSP00000509799.1:n.676-2744G>A | |
| ENST00000685686.1:c.676-2744G>A | ENSP00000509879.1:n.676-2744G>A | |
| ENST00000685987.1:c.814-2744G>A | ENSP00000508957.1:n.814-2744G>A | |
| ENST00000685991.1:c.814-2744G>A | ENSP00000510804.1:n.814-2744G>A | |
| ENST00000686320.1:c.1519-2744G>A | ENSP00000508724.1:n.1519-2744G>A | |
| ENST00000686386.1:n.3215-2744G>A | ||
| ENST00000686669.1:n.1650-2744G>A | ||
| ENST00000686741.1:c.676-2744G>A | ENSP00000510596.1:n.676-2744G>A | |
| ENST00000686952.1:c.676-2744G>A | ENSP00000509331.1:n.676-2744G>A | |
| ENST00000687287.1:c.724-2744G>A | ENSP00000510538.1:n.724-2744G>A | |
| ENST00000687587.1:n.752-2744G>A | ||
| ENST00000687952.1:n.496-2744G>A | ||
| ENST00000688312.1:n.1569-2744G>A | ||
| ENST00000688335.1:c.676-2744G>A | ENSP00000509646.1:n.676-2744G>A | |
| ENST00000688363.1:c.5047-2744G>A | ENSP00000510178.1:n.5047-2744G>A | |
| ENST00000688626.1:c.5143-2744G>A | ENSP00000509239.1:n.5143-2744G>A | |
| ENST00000689207.1:n.3587-2744G>A | ||
| ENST00000689454.1:c.676-2744G>A | ENSP00000509389.1:n.676-2744G>A | |
| ENST00000690976.1:c.814-2744G>A | ENSP00000510740.1:n.814-2744G>A | |
| ENST00000691097.1:n.2007-2744G>A | ||
| ENST00000691561.1:c.676-2744G>A | ENSP00000510517.1:n.676-2744G>A | |
| ENST00000693205.1:n.4110-2744G>A | ||
| ENST00000693262.1:c.676-2744G>A | ENSP00000509811.1:n.676-2744G>A | |
| ENST00000693547.1:c.1042-2744G>A | ENSP00000508942.1:n.1042-2744G>A | |
| ENST00000693735.1:c.364-2744G>A | ENSP00000508505.1:n.364-2744G>A | |
| ENST00000379939.7:c.7297-2744G>A MANE Select | ENSP00000369271.2:n.7297-2744G>A | |
| ENST00000629018.3:c.3161-2744G>A | ||
| ENST00000310336.8:c.7300-2744G>A | ENSP00000308534.5:n.7300-2744G>A | |
| ENST00000379922.3:c.-33-2744G>A | ENSP00000369254.3:n.-33-2744G>A | |
| ENST00000379939.6:c.7288-2744G>A | ENSP00000369271.1:n.7288-2744G>A | |
| ENST00000400445.7:c.7297-2744G>A | ENSP00000383295.3:n.7297-2744G>A | |
| ENST00000537702.5:c.676-2744G>A | ENSP00000440233.1:n.676-2744G>A | |
| ENST00000629018.2:c.7297-2744G>A | ENSP00000486239.1:n.7297-2744G>A | |
| NM_001204197.1:c.676-2744G>A | NP_001191126.1:n.676-2744G>A | |
| NM_015678.4:c.7297-2744G>A | NP_056493.3:n.7297-2744G>A | |
| XM_005266346.3:c.7297-2744G>A | XP_005266403.1:n.7297-2744G>A | |
| XM_005266347.3:c.7297-2744G>A | XP_005266404.2:n.7297-2744G>A | |
| XM_005266348.3:c.7288-2744G>A | XP_005266405.2:n.7288-2744G>A | |
| XM_005266350.2:c.6319-2744G>A | XP_005266407.1:n.6319-2744G>A | |
| XM_006719803.2:c.7297-2744G>A | XP_006719866.1:n.7297-2744G>A | |
| XM_006719805.2:c.7288-2744G>A | XP_006719868.1:n.7288-2744G>A | |
| XM_006719806.2:c.7288-2744G>A | XP_006719869.1:n.7288-2744G>A | |
| XM_011535045.1:c.7297-2744G>A | XP_011533347.1:n.7297-2744G>A | |
| XM_011535046.1:c.5860-2744G>A | XP_011533348.1:n.5860-2744G>A | |
| XM_005266346.4:c.7297-2744G>A | XP_005266403.1:n.7297-2744G>A | |
| XM_005266347.4:c.7297-2744G>A | XP_005266404.2:n.7297-2744G>A | |
| XM_005266348.4:c.7288-2744G>A | XP_005266405.2:n.7288-2744G>A | |
| XM_006719803.3:c.7297-2744G>A | XP_006719866.1:n.7297-2744G>A | |
| XM_006719805.3:c.7288-2744G>A | XP_006719868.1:n.7288-2744G>A | |
| XM_006719806.3:c.7288-2744G>A | XP_006719869.1:n.7288-2744G>A | |
| XM_011535046.2:c.5860-2744G>A | XP_011533348.1:n.5860-2744G>A | |
| XM_017020544.1:c.7279-2744G>A | XP_016876033.1:n.7279-2744G>A | |
| XM_017020545.1:c.7279-2744G>A | XP_016876034.1:n.7279-2744G>A | |
| XM_017020546.1:c.6976-2744G>A | XP_016876035.1:n.6976-2744G>A | |
| XM_024449338.1:c.5911-2744G>A | XP_024305106.1:n.5911-2744G>A | |
| NM_001204197.2:c.676-2744G>A | NP_001191126.1:n.676-2744G>A | |
| NM_015678.5:c.7297-2744G>A | NP_056493.3:n.7297-2744G>A | |
| NM_001204197.3:c.676-2744G>A | NP_001191126.1:n.676-2744G>A | |
| NM_001379245.1:c.7288-2744G>A | NP_001366174.1:n.7288-2744G>A | |
| NM_001385012.1:c.7297-2744G>A MANE Select | NP_001371941.1:n.7297-2744G>A |