Linked Data
dbSNP Id:
rs1192029769
gnomAD v2:
7-19156542-T-C
gnomAD v4:
7-19116919-T-C
COSMIC:
COSM4738443
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116919T>C , CM000669.2:g.19116919T>C | GRCh38 |
| NC_000007.13:g.19156542T>C , CM000669.1:g.19156542T>C | GRCh37 |
| NC_000007.12:g.19123067T>C | NCBI36 |
| NG_008114.1:g.5754A>G | |
| NG_008114.2:g.5754A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.403A>G MANE Select | ENSP00000242261.5:p.Ile135Val | |
| ENST00000242261.5:c.403A>G | ENSP00000242261.5:p.Ile135Val | |
| ENST00000354571.5:c.200A>G | ||
| ENST00000443687.5:c.6A>G | ||
| NM_000474.3:c.403A>G | NP_000465.1:p.Ile135Val | |
| XM_011515496.1:c.403A>G | XP_011513798.1:p.Ile135Val | |
| NR_149001.1:n.754A>G | ||
| NM_000474.4:c.403A>G MANE Select | NP_000465.1:p.Ile135Val | |
| NR_149001.2:n.718A>G |