Linked Data
dbSNP Id:
rs1291936993
gnomAD v2:
4-40356511-A-G
gnomAD v3:
4-40354494-A-G
gnomAD v4:
4-40354494-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354494A>G , CM000666.2:g.40354494A>G | GRCh38 |
| NC_000004.11:g.40356511A>G , CM000666.1:g.40356511A>G | GRCh37 |
| NC_000004.10:g.40051268A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310169.3:c.1414A>G MANE Select | ENSP00000312663.2:p.Ile472Val | |
| ENST00000310169.2:c.1414A>G | ENSP00000312663.2:p.Ile472Val | |
| NM_017581.3:c.1414A>G | NP_060051.2:p.Ile472Val | |
| NM_017581.4:c.1414A>G MANE Select | NP_060051.2:p.Ile472Val |