Linked Data
dbSNP Id:
rs1477987617
gnomAD v2:
19-18898400-G-T
gnomAD v3:
19-18787591-G-T
gnomAD v4:
19-18787591-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787591G>T , CM000681.2:g.18787591G>T | GRCh38 |
| NC_000019.9:g.18898400G>T , CM000681.1:g.18898400G>T | GRCh37 |
| NC_000019.8:g.18759400G>T | NCBI36 |
| NG_007070.1:g.8715C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1035C>A MANE Select | ENSP00000222271.2:p.Gly345= | |
| ENST00000222271.6:c.1035C>A | ENSP00000222271.2:p.Gly345= | |
| ENST00000425807.1:c.876C>A | ENSP00000403792.1:p.Gly292= | |
| ENST00000542601.6:c.936C>A | ENSP00000439156.2:p.Gly312= | |
| NM_000095.2:c.1035C>A | NP_000086.2:p.Gly345= | |
| NM_000095.3:c.1035C>A MANE Select | NP_000086.2:p.Gly345= |