Linked Data
ClinVar Variation Id:
776885
ClinVar RCV Id:
RCV000957269
dbSNP Id:
rs33916441
ExAC:
15:43712852 G / A
gnomAD v2:
15-43712852-G-A
gnomAD v3:
15-43420654-G-A
gnomAD v4:
15-43420654-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43420654G>A , CM000677.2:g.43420654G>A | GRCh38 |
| NC_000015.9:g.43712852G>A , CM000677.1:g.43712852G>A | GRCh37 |
| NC_000015.8:g.41500144G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382044.9:c.4332C>T MANE Select | ENSP00000371475.5:p.Val1444= | |
| ENST00000263801.7:c.4317C>T | ENSP00000263801.3:p.Val1439= | |
| ENST00000382039.7:c.4182C>T | ENSP00000371470.3:p.Val1394= | |
| ENST00000382044.8:c.4332C>T | ENSP00000371475.4:p.Val1444= | |
| ENST00000411772.5:c.2205C>T | ||
| ENST00000450115.6:c.4332C>T | ENSP00000393497.2:p.Val1444= | |
| ENST00000571145.1:n.115C>T | ||
| ENST00000572085.5:n.4445C>T | ||
| NM_001141979.1:c.4332C>T | NP_001135451.1:p.Val1444= | |
| NM_001141980.1:c.4332C>T | NP_001135452.1:p.Val1444= | |
| NM_005657.2:c.4317C>T | NP_005648.1:p.Val1439= | |
| XM_005254635.3:c.1452C>T | XP_005254692.1:p.Val484= | |
| XM_011521984.1:c.4317C>T | XP_011520286.1:p.Val1439= | |
| XM_011521985.1:c.4182C>T | XP_011520287.1:p.Val1394= | |
| XM_011521986.1:c.4332C>T | XP_011520288.1:p.Val1444= | |
| XR_931898.1:n.4444C>T | ||
| NM_001141979.2:c.4332C>T | NP_001135451.1:p.Val1444= | |
| NM_001141980.2:c.4332C>T | NP_001135452.1:p.Val1444= | |
| NM_001355001.1:c.1452C>T | NP_001341930.1:p.Val484= | |
| NM_005657.3:c.4317C>T | NP_005648.1:p.Val1439= | |
| XM_011521985.2:c.4182C>T | XP_011520287.1:p.Val1394= | |
| XM_011521986.3:c.4332C>T | XP_011520288.1:p.Val1444= | |
| XR_001751382.2:n.4445C>T | ||
| NM_001141979.3:c.4332C>T | NP_001135451.1:p.Val1444= | |
| NM_001141980.3:c.4332C>T MANE Select | NP_001135452.1:p.Val1444= | |
| NM_001355001.2:c.1452C>T | NP_001341930.1:p.Val484= | |
| NM_005657.4:c.4317C>T | NP_005648.1:p.Val1439= |