Linked Data
dbSNP Id:
rs1162639854
gnomAD v2:
5-56178078-A-G
gnomAD v3:
5-56882251-A-G
gnomAD v4:
5-56882251-A-G
COSMIC:
COSM4780297
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.56882251A>G , CM000667.2:g.56882251A>G | GRCh38 |
| NC_000005.9:g.56178078A>G , CM000667.1:g.56178078A>G | GRCh37 |
| NC_000005.8:g.56213835A>G | NCBI36 |
| NG_031884.1:g.72179A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399503.4:c.3051A>G MANE Select | ENSP00000382423.3:p.Ala1017= | |
| ENST00000399503.3:c.3051A>G | ENSP00000382423.3:p.Ala1017= | |
| NM_005921.1:c.3051A>G | NP_005912.1:p.Ala1017= | |
| XM_005248519.3:c.2673A>G | XP_005248576.2:p.Ala891= | |
| XM_011543406.1:c.2796A>G | XP_011541708.1:p.Ala932= | |
| XM_011543407.1:c.2772A>G | XP_011541709.1:p.Ala924= | |
| XM_011543408.1:c.3051A>G | XP_011541710.1:p.Ala1017= | |
| XM_017009484.1:c.2640A>G | XP_016864973.1:p.Ala880= | |
| XM_017009485.1:c.2562A>G | XP_016864974.1:p.Ala854= | |
| XR_001742068.2:n.3082A>G | ||
| NM_005921.2:c.3051A>G MANE Select | NP_005912.1:p.Ala1017= |