Linked Data
dbSNP Id:
rs200031420
ExAC:
7:19156456 G / C
gnomAD v2:
7-19156456-G-C
gnomAD v3:
7-19116833-G-C
gnomAD v4:
7-19116833-G-C
COSMIC:
COSM3307360
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116833G>C , CM000669.2:g.19116833G>C | GRCh38 |
| NC_000007.13:g.19156456G>C , CM000669.1:g.19156456G>C | GRCh37 |
| NC_000007.12:g.19122981G>C | NCBI36 |
| NG_008114.1:g.5840C>G | |
| NG_008114.2:g.5840C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.489C>G MANE Select | ENSP00000242261.5:p.Leu163= | |
| ENST00000242261.5:c.489C>G | ENSP00000242261.5:p.Leu163= | |
| ENST00000354571.5:c.286C>G | ||
| ENST00000443687.5:c.92C>G | ||
| NM_000474.3:c.489C>G | NP_000465.1:p.Leu163= | |
| XM_011515496.1:c.489C>G | XP_011513798.1:p.Leu163= | |
| NR_149001.1:n.840C>G | ||
| NM_000474.4:c.489C>G MANE Select | NP_000465.1:p.Leu163= | |
| NR_149001.2:n.804C>G |