Linked Data
ClinVar Variation Id:
415964
dbSNP Id:
rs113830913
ExAC:
12:116408511 G / A
gnomAD v2:
12-116408511-G-A
gnomAD v3:
12-115970706-G-A
gnomAD v4:
12-115970706-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115970706G>A , CM000674.2:g.115970706G>A | GRCh38 |
| NC_000012.11:g.116408511G>A , CM000674.1:g.116408511G>A | GRCh37 |
| NC_000012.10:g.114892894G>A | NCBI36 |
| NG_023366.1:g.311481C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281928.9:c.5955C>T MANE Select | ENSP00000281928.3:p.Leu1985= | |
| ENST00000548784.2:n.2169C>T | ||
| ENST00000648379.1:n.4323C>T | ||
| ENST00000648737.1:n.5719C>T | ||
| ENST00000648825.1:n.4140C>T | ||
| ENST00000648916.1:n.3966C>T | ||
| ENST00000649607.1:c.4139C>T | ||
| ENST00000649775.1:c.2444C>T | ||
| ENST00000650226.1:c.5991C>T | ENSP00000496981.1:p.Leu1997= | |
| ENST00000281928.7:c.5955C>T | ENSP00000281928.3:p.Leu1985= | |
| ENST00000548784.1:n.453C>T | ||
| ENST00000552447.1:c.568C>T | ||
| NM_015335.4:c.5955C>T | NP_056150.1:p.Leu1985= | |
| XM_011538080.1:c.5991C>T | XP_011536382.1:p.Leu1997= | |
| XM_011538081.1:c.5988C>T | XP_011536383.1:p.Leu1996= | |
| XM_011538082.1:c.5961C>T | XP_011536384.1:p.Leu1987= | |
| XM_011538080.2:c.5991C>T | XP_011536382.1:p.Leu1997= | |
| XM_011538081.2:c.5988C>T | XP_011536383.1:p.Leu1996= | |
| XM_011538082.2:c.5961C>T | XP_011536384.1:p.Leu1987= | |
| XM_017019090.1:c.5952C>T | XP_016874579.1:p.Leu1984= | |
| NM_015335.5:c.5955C>T MANE Select | NP_056150.1:p.Leu1985= |