Linked Data
dbSNP Id:
rs749514978
ExAC:
22:20127381 G / A
gnomAD v2:
22-20127381-G-A
gnomAD v4:
22-20139858-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20139858G>A , CM000684.2:g.20139858G>A | GRCh38 |
| NC_000022.10:g.20127381G>A , CM000684.1:g.20127381G>A | GRCh37 |
| NC_000022.9:g.18507381G>A | NCBI36 |
| NG_021420.1:g.13018G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334554.12:c.523G>A MANE Select | ENSP00000334490.7:p.Ala175Thr | |
| ENST00000320602.11:c.384+223G>A | ENSP00000317804.7:n.384+223G>A | |
| ENST00000334554.11:c.523G>A | ENSP00000334490.7:p.Ala175Thr | |
| ENST00000405930.3:c.523G>A | ENSP00000384716.3:p.Ala175Thr | |
| ENST00000436518.5:c.490G>A | ENSP00000412807.1:p.Ala164Thr | |
| ENST00000468112.5:n.58-759G>A | ||
| NM_001185024.1:c.523G>A | NP_001171953.1:p.Ala175Thr | |
| NM_013373.3:c.523G>A | NP_037505.1:p.Ala175Thr | |
| XM_006724239.2:c.523G>A | XP_006724302.1:p.Ala175Thr | |
| NM_001185024.2:c.523G>A | NP_001171953.1:p.Ala175Thr | |
| NM_013373.4:c.523G>A MANE Select | NP_037505.1:p.Ala175Thr |