Linked Data
ClinVar Variation Id:
799483
ClinVar RCV Id:
RCV001427074
dbSNP Id:
rs775053176
ExAC:
9:104189767 C / T
gnomAD v2:
9-104189767-C-T
gnomAD v3:
9-101427485-C-T
gnomAD v4:
9-101427485-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101427485C>T , CM000671.2:g.101427485C>T | GRCh38 |
| NC_000009.11:g.104189767C>T , CM000671.1:g.104189767C>T | GRCh37 |
| NC_000009.10:g.103229588C>T | NCBI36 |
| NG_012387.1:g.13296G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.537G>A MANE Select | ENSP00000497767.1:p.Gln179= | |
| ENST00000648064.1:c.537G>A | ENSP00000497990.1:p.Gln179= | |
| ENST00000648758.1:c.537G>A | ENSP00000497731.1:p.Gln179= | |
| ENST00000649902.1:c.537G>A | ENSP00000497216.1:p.Gln179= | |
| ENST00000374855.8:c.537G>A | ENSP00000363988.4:p.Gln179= | |
| ENST00000468981.3:n.68-847G>A | ||
| ENST00000616752.1:c.537G>A | ENSP00000481363.1:p.Gln179= | |
| NM_000035.3:c.537G>A | NP_000026.2:p.Gln179= | |
| NM_000035.4:c.537G>A MANE Select | NP_000026.2:p.Gln179= |