Linked Data
ClinVar Variation Id:
451047
dbSNP Id:
rs751923342
ExAC:
15:38591737 A / C
gnomAD v2:
15-38591737-A-C
gnomAD v3:
15-38299536-A-C
gnomAD v4:
15-38299536-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.38299536A>C , CM000677.2:g.38299536A>C | GRCh38 |
| NC_000015.9:g.38591737A>C , CM000677.1:g.38591737A>C | GRCh37 |
| NC_000015.8:g.36379029A>C | NCBI36 |
| NG_008980.1:g.51686A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299084.9:c.196A>C MANE Select | ENSP00000299084.4:p.Arg66= | |
| ENST00000299084.8:c.196A>C | ENSP00000299084.4:p.Arg66= | |
| ENST00000561205.1:n.534A>C | ||
| ENST00000561317.1:c.133A>C | ENSP00000453680.1:p.Arg45= | |
| NM_152594.2:c.196A>C | NP_689807.1:p.Arg66= | |
| XM_005254202.2:c.232A>C | XP_005254259.1:p.Arg78= | |
| XM_005254203.3:c.-15-22705A>C | XP_005254260.1:n.-15-22705A>C | |
| XM_011521288.1:c.133A>C | XP_011519590.1:p.Arg45= | |
| XM_011521289.1:c.133A>C | XP_011519591.1:p.Arg45= | |
| XM_011521290.1:c.133A>C | XP_011519592.1:p.Arg45= | |
| XM_005254202.3:c.232A>C | XP_005254259.1:p.Arg78= | |
| XM_011521289.3:c.133A>C | XP_011519591.1:p.Arg45= | |
| NM_152594.3:c.196A>C MANE Select | NP_689807.1:p.Arg66= |