Linked Data
ClinVar Variation Id:
13683
ClinVar RCV Id:
RCV000014677
RCV000014678
RCV000763299
RCV000808101
RCV001275108
RCV002276549
RCV002288490
RCV004549369
dbSNP Id:
rs121918019
ExAC:
1:21890587 G / A
gnomAD v2:
1-21890587-G-A
gnomAD v3:
1-21564094-G-A
gnomAD v4:
1-21564094-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21564094G>A , CM000663.2:g.21564094G>A | GRCh38 |
| NC_000001.10:g.21890587G>A , CM000663.1:g.21890587G>A | GRCh37 |
| NC_000001.9:g.21763174G>A | NCBI36 |
| NG_008940.1:g.59730G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374840.8:c.526G>A MANE Select | ENSP00000363973.3:p.Ala176Thr | |
| ENST00000374832.5:c.526G>A | ENSP00000363965.1:p.Ala176Thr | |
| ENST00000374840.7:c.526G>A | ENSP00000363973.3:p.Ala176Thr | |
| ENST00000468526.1:n.586G>A | ||
| ENST00000539907.5:c.295G>A | ENSP00000437674.1:p.Ala99Thr | |
| ENST00000540617.5:c.361G>A | ENSP00000442672.1:p.Ala121Thr | |
| NM_000478.4:c.526G>A | NP_000469.3:p.Ala176Thr | |
| NM_001127501.2:c.361G>A | NP_001120973.2:p.Ala121Thr | |
| NM_001177520.1:c.295G>A | NP_001170991.1:p.Ala99Thr | |
| XM_005245818.1:c.526G>A | XP_005245875.1:p.Ala176Thr | |
| XM_005245820.2:c.526G>A | XP_005245877.1:p.Ala176Thr | |
| XM_006710546.1:c.526G>A | XP_006710609.1:p.Ala176Thr | |
| NM_000478.5:c.526G>A | NP_000469.3:p.Ala176Thr | |
| NM_001127501.3:c.361G>A | NP_001120973.2:p.Ala121Thr | |
| NM_001177520.2:c.295G>A | NP_001170991.1:p.Ala99Thr | |
| XM_006710546.3:c.526G>A | XP_006710609.1:p.Ala176Thr | |
| XM_017000903.1:c.370G>A | XP_016856392.1:p.Ala124Thr | |
| NM_000478.6:c.526G>A MANE Select | NP_000469.3:p.Ala176Thr | |
| NM_001127501.4:c.361G>A | NP_001120973.2:p.Ala121Thr | |
| NM_001177520.3:c.295G>A | NP_001170991.1:p.Ala99Thr | |
| NM_001369803.2:c.526G>A | NP_001356732.1:p.Ala176Thr | |
| NM_001369804.2:c.526G>A | NP_001356733.1:p.Ala176Thr | |
| NM_001369805.2:c.526G>A | NP_001356734.1:p.Ala176Thr |