Linked Data
dbSNP Id:
rs1158955891
gnomAD v2:
7-21920461-C-G
gnomAD v3:
7-21880843-C-G
gnomAD v4:
7-21880843-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21880843C>G , CM000669.2:g.21880843C>G | GRCh38 |
| NC_000007.13:g.21920461C>G , CM000669.1:g.21920461C>G | GRCh37 |
| NC_000007.12:g.21886986C>G | NCBI36 |
| NG_012886.2:g.342629C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.12337C>G MANE Select | ENSP00000475939.1:p.Leu4113Val | |
| ENST00000328843.10:c.12358C>G | ENSP00000330671.7:p.Leu4120Val | |
| ENST00000409508.7:c.12337C>G | ENSP00000475939.1:p.Leu4113Val | |
| ENST00000620169.4:c.12358C>G | ENSP00000481693.1:p.Leu4120Val | |
| NM_001277115.1:c.12337C>G | NP_001264044.1:p.Leu4113Val | |
| NM_001277115.2:c.12337C>G MANE Select | NP_001264044.1:p.Leu4113Val |