Linked Data
dbSNP Id:
rs77718928
ExAC:
9:104184173 G / C
gnomAD v2:
9-104184173-G-C
gnomAD v3:
9-101421891-G-C
gnomAD v4:
9-101421891-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101421891G>C , CM000671.2:g.101421891G>C | GRCh38 |
| NC_000009.11:g.104184173G>C , CM000671.1:g.104184173G>C | GRCh37 |
| NC_000009.10:g.103223994G>C | NCBI36 |
| NG_012387.1:g.18890C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.1013C>G MANE Select | ENSP00000497767.1:p.Ala338Gly | |
| ENST00000648064.1:c.1013C>G | ENSP00000497990.1:p.Ala338Gly | |
| ENST00000648758.1:c.1013C>G | ENSP00000497731.1:p.Ala338Gly | |
| ENST00000374855.8:c.1013C>G | ENSP00000363988.4:p.Ala338Gly | |
| ENST00000616752.1:c.*25C>G | ENSP00000481363.1:n.*25C>G | |
| NM_000035.3:c.1013C>G | NP_000026.2:p.Ala338Gly | |
| NM_000035.4:c.1013C>G MANE Select | NP_000026.2:p.Ala338Gly |