Linked Data
dbSNP Id:
rs1399884896
gnomAD v2:
6-6182252-C-G
gnomAD v4:
6-6182019-C-G
COSMIC:
COSM4952902
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6182019C>G , CM000668.2:g.6182019C>G | GRCh38 |
| NC_000006.11:g.6182252C>G , CM000668.1:g.6182252C>G | GRCh37 |
| NC_000006.10:g.6127251C>G | NCBI36 |
| NG_008107.1:g.143673G>C , LRG_549:g.143673G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264870.8:c.1428G>C MANE Select | ENSP00000264870.3:p.Met476Ile | |
| ENST00000264870.7:c.1428G>C | ENSP00000264870.3:p.Met476Ile | |
| NM_000129.3:c.1428G>C , LRG_549t1:c.1428G>C | NP_000120.2:p.Met476Ile | |
| XM_006715010.2:c.1428G>C | XP_006715073.1:p.Met476Ile | |
| XM_011514342.1:c.1590G>C | XP_011512644.1:p.Met530Ile | |
| NM_000129.4:c.1428G>C MANE Select | NP_000120.2:p.Met476Ile |