Linked Data
ClinVar Variation Id:
134005
ClinVar RCV Id:
RCV000120674
dbSNP Id:
rs146769748
ExAC:
6:139135706 G / A
gnomAD v2:
6-139135706-G-A
gnomAD v3:
6-138814569-G-A
gnomAD v4:
6-138814569-G-A
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.138814569G>A , CM000668.2:g.138814569G>A | GRCh38 |
| NC_000006.11:g.139135706G>A , CM000668.1:g.139135706G>A | GRCh37 |
| NC_000006.10:g.139177399G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000401414.4:c.145G>A | ENSP00000385187.3:p.Ala49Thr | |
| ENST00000541398.7:c.145G>A MANE Select | ENSP00000442307.2:p.Ala49Thr | |
| ENST00000367682.6:c.145G>A | ENSP00000356655.2:p.Ala49Thr | |
| ENST00000401414.3:c.145G>A | ENSP00000385187.2:p.Ala49Thr | |
| ENST00000423192.5:c.145G>A | ENSP00000387388.1:p.Ala49Thr | |
| ENST00000541398.5:c.145G>A | ENSP00000442307.2:p.Ala49Thr | |
| NM_001077706.2:c.145G>A | NP_001071174.1:p.Ala49Thr | |
| NM_001195037.2:c.145G>A | NP_001181966.1:p.Ala49Thr | |
| XM_006715472.2:c.145G>A | XP_006715535.1:p.Ala49Thr | |
| XM_011535795.1:c.145G>A | XP_011534097.1:p.Ala49Thr | |
| XM_011535797.1:c.-29+1229G>A | XP_011534099.1:n.-29+1229G>A | |
| XM_006715472.3:c.145G>A | XP_006715535.1:p.Ala49Thr | |
| XM_011535795.2:c.145G>A | XP_011534097.1:p.Ala49Thr | |
| XM_011535797.2:c.-29+1229G>A | XP_011534099.1:n.-29+1229G>A | |
| XM_017010828.1:c.145G>A | XP_016866317.1:p.Ala49Thr | |
| XM_017010829.1:c.145G>A | XP_016866318.1:p.Ala49Thr | |
| XM_017010830.1:c.145G>A | XP_016866319.1:p.Ala49Thr | |
| NM_001077706.3:c.145G>A MANE Select | NP_001071174.1:p.Ala49Thr |