Linked Data
ClinVar Variation Id:
2885152
ClinVar RCV Id:
RCV003717107
dbSNP Id:
rs767960054
ExAC:
19:12997939 T / A
gnomAD v2:
19-12997939-T-A
gnomAD v3:
19-12887125-T-A
gnomAD v4:
19-12887125-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887125T>A , CM000681.2:g.12887125T>A | GRCh38 |
| NC_000019.9:g.12997939T>A , CM000681.1:g.12997939T>A | GRCh37 |
| NC_000019.8:g.12858939T>A | NCBI36 |
| NG_009292.1:g.966T>A | |
| NG_013087.1:g.5079A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.16A>T MANE Select | ENSP00000264834.3:p.Thr6Ser | |
| ENST00000264834.4:c.16A>T | ENSP00000264834.3:p.Thr6Ser | |
| NM_006563.3:c.16A>T | NP_006554.1:p.Thr6Ser | |
| XM_011527642.1:c.-188A>T | XP_011525944.1:n.-188A>T | |
| NM_006563.4:c.16A>T | NP_006554.1:p.Thr6Ser | |
| NM_006563.5:c.16A>T MANE Select | NP_006554.1:p.Thr6Ser |