Linked Data
dbSNP Id:
rs572213550
ExAC:
9:131708373 G / C
gnomAD v2:
9-131708373-G-C
gnomAD v3:
9-128946094-G-C
gnomAD v4:
9-128946094-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128946094G>C , CM000671.2:g.128946094G>C | GRCh38 |
| NC_000009.11:g.131708373G>C , CM000671.1:g.131708373G>C | GRCh37 |
| NC_000009.10:g.130748194G>C | NCBI36 |
| NG_017009.1:g.6640C>G , LRG_744:g.6640C>G | |
| NG_033111.1:g.3402G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.1210C>G MANE Select | ENSP00000361667.3:p.Leu404Val | |
| ENST00000372586.3:c.1210C>G | ENSP00000361667.3:p.Leu404Val | |
| ENST00000482796.1:c.39-3095G>C | ENSP00000417556.2:n.39-3095G>C | |
| NM_014908.3:c.1210C>G , LRG_744t1:c.1210C>G | NP_055723.1:p.Leu404Val | |
| NM_014908.4:c.1210C>G MANE Select | NP_055723.1:p.Leu404Val |