Linked Data
ClinVar Variation Id:
2675466
ClinVar RCV Id:
RCV003460178
dbSNP Id:
rs574635615
gnomAD v2:
9-104189766-G-A
gnomAD v4:
9-101427484-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101427484G>A , CM000671.2:g.101427484G>A | GRCh38 |
| NC_000009.11:g.104189766G>A , CM000671.1:g.104189766G>A | GRCh37 |
| NC_000009.10:g.103229587G>A | NCBI36 |
| NG_012387.1:g.13297C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.538C>T MANE Select | ENSP00000497767.1:p.Gln180Ter | |
| ENST00000648064.1:c.538C>T | ENSP00000497990.1:p.Gln180Ter | |
| ENST00000648758.1:c.538C>T | ENSP00000497731.1:p.Gln180Ter | |
| ENST00000649902.1:c.538C>T | ENSP00000497216.1:p.Gln180Ter | |
| ENST00000374855.8:c.538C>T | ENSP00000363988.4:p.Gln180Ter | |
| ENST00000468981.3:n.68-846C>T | ||
| ENST00000616752.1:c.538C>T | ENSP00000481363.1:p.Gln180Ter | |
| NM_000035.3:c.538C>T | NP_000026.2:p.Gln180Ter | |
| NM_000035.4:c.538C>T MANE Select | NP_000026.2:p.Gln180Ter |