Linked Data
dbSNP Id:
rs201424676
gnomAD v2:
9-104187759-G-C
gnomAD v3:
9-101425477-G-C
gnomAD v4:
9-101425477-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101425477G>C , CM000671.2:g.101425477G>C | GRCh38 |
| NC_000009.11:g.104187759G>C , CM000671.1:g.104187759G>C | GRCh37 |
| NC_000009.10:g.103227580G>C | NCBI36 |
| NG_012387.1:g.15304C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.775C>G MANE Select | ENSP00000497767.1:p.Arg259Gly | |
| ENST00000648064.1:c.775C>G | ENSP00000497990.1:p.Arg259Gly | |
| ENST00000648758.1:c.775C>G | ENSP00000497731.1:p.Arg259Gly | |
| ENST00000649902.1:c.775C>G | ENSP00000497216.1:p.Arg259Gly | |
| ENST00000374855.8:c.775C>G | ENSP00000363988.4:p.Arg259Gly | |
| ENST00000616752.1:c.775C>G | ENSP00000481363.1:p.Arg259Gly | |
| NM_000035.3:c.775C>G | NP_000026.2:p.Arg259Gly | |
| NM_000035.4:c.775C>G MANE Select | NP_000026.2:p.Arg259Gly |