Linked Data
ClinVar Variation Id:
1547121
ClinVar RCV Id:
RCV002173294
dbSNP Id:
rs200477546
ExAC:
17:72915989 G / T
gnomAD v2:
17-72915989-G-T
gnomAD v4:
17-74919894-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74919894G>T , CM000679.2:g.74919894G>T | GRCh38 |
| NC_000017.10:g.72915989G>T , CM000679.1:g.72915989G>T | GRCh37 |
| NC_000017.9:g.70427584G>T | NCBI36 |
| NG_007882.1:g.8363C>A | |
| NG_033062.1:g.620G>T | |
| NG_007882.2:g.8370C>A | |
| NG_033062.2:g.620G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614341.5:c.942C>A MANE Select | ENSP00000480279.1:p.Thr314= | |
| ENST00000579243.1:c.*541C>A | ENSP00000462568.1:n.*541C>A | |
| ENST00000614341.4:c.942C>A | ENSP00000480279.1:p.Thr314= | |
| NM_001282489.2:c.633C>A | NP_001269418.1:p.Thr211= | |
| NM_173477.4:c.942C>A | NP_775748.2:p.Thr314= | |
| XM_011524296.1:c.633C>A | XP_011522598.1:p.Thr211= | |
| XM_011524296.2:c.633C>A | XP_011522598.1:p.Thr211= | |
| NM_173477.5:c.942C>A MANE Select | NP_775748.2:p.Thr314= | |
| NM_001282489.3:c.633C>A | NP_001269418.1:p.Thr211= |