Linked Data
ClinVar Variation Id:
502588
dbSNP Id:
rs188150039
gnomAD v2:
11-22283811-C-A
gnomAD v4:
11-22262265-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22262265C>A , CM000673.2:g.22262265C>A | GRCh38 |
| NC_000011.9:g.22283811C>A , CM000673.1:g.22283811C>A | GRCh37 |
| NC_000011.8:g.22240387C>A | NCBI36 |
| NG_015844.1:g.74090C>A , LRG_868:g.74090C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682266.1:c.1317C>A | ENSP00000507766.1:p.Tyr439Ter | |
| ENST00000682341.1:c.1725C>A | ENSP00000508251.1:p.Tyr575Ter | |
| ENST00000683197.1:c.1725C>A | ENSP00000507641.1:p.Tyr575Ter | |
| ENST00000683411.1:c.1317C>A | ENSP00000508397.1:p.Tyr439Ter | |
| ENST00000683437.1:c.1317C>A | ENSP00000508408.1:p.Tyr439Ter | |
| ENST00000683613.1:n.2761C>A | ||
| ENST00000684663.1:c.1722C>A | ENSP00000508009.1:p.Tyr574Ter | |
| ENST00000324559.9:c.1767C>A MANE Select | ENSP00000315371.9:p.Tyr589Ter | |
| ENST00000648804.1:n.2102C>A | ||
| ENST00000324559.8:c.1767C>A | ENSP00000315371.8:p.Tyr589Ter | |
| NM_001142649.1:c.1764C>A | NP_001136121.1:p.Tyr588Ter | |
| NM_213599.2:c.1767C>A , LRG_868t1:c.1767C>A | NP_998764.1:p.Tyr589Ter | |
| XM_005252820.2:c.1725C>A | XP_005252877.2:p.Tyr575Ter | |
| XM_005252821.2:c.1722C>A | XP_005252878.2:p.Tyr574Ter | |
| XM_005252822.3:c.1689C>A | XP_005252879.1:p.Tyr563Ter | |
| XM_005252823.3:c.1686C>A | XP_005252880.1:p.Tyr562Ter | |
| XM_011519949.1:c.1674C>A | XP_011518251.1:p.Tyr558Ter | |
| XM_005252820.3:c.1725C>A | XP_005252877.2:p.Tyr575Ter | |
| XM_005252821.3:c.1722C>A | XP_005252878.2:p.Tyr574Ter | |
| XM_005252822.4:c.1689C>A | XP_005252879.1:p.Tyr563Ter | |
| XM_011519949.2:c.1674C>A | XP_011518251.1:p.Tyr558Ter | |
| NM_001142649.2:c.1764C>A | NP_001136121.1:p.Tyr588Ter | |
| NM_213599.3:c.1767C>A MANE Select | NP_998764.1:p.Tyr589Ter |