Linked Data
ClinVar Variation Id:
2444662
ClinVar RCV Id:
RCV003154425
dbSNP Id:
rs1220965943
gnomAD v2:
16-3779715-G-A
COSMIC:
COSM3509553
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3729714G>A , CM000678.2:g.3729714G>A | GRCh38 |
| NC_000016.9:g.3779715G>A , CM000678.1:g.3779715G>A | GRCh37 |
| NC_000016.8:g.3719716G>A | NCBI36 |
| NG_009873.1:g.155407C>T | |
| NG_009873.2:g.156000C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.5333C>T MANE Select | ENSP00000262367.5:p.Ser1778Leu | |
| ENST00000262367.9:c.5333C>T | ENSP00000262367.5:p.Ser1778Leu | |
| ENST00000382070.7:c.5219C>T | ENSP00000371502.3:p.Ser1740Leu | |
| NM_001079846.1:c.5219C>T | NP_001073315.1:p.Ser1740Leu | |
| NM_004380.2:c.5333C>T | NP_004371.2:p.Ser1778Leu | |
| XM_005255124.3:c.5288C>T | XP_005255181.1:p.Ser1763Leu | |
| XM_005255125.3:c.4916C>T | XP_005255182.1:p.Ser1639Leu | |
| XM_006720848.2:c.5072C>T | XP_006720911.1:p.Ser1691Leu | |
| XM_011522380.1:c.5279C>T | XP_011520682.1:p.Ser1760Leu | |
| XM_011522381.1:c.4580C>T | XP_011520683.1:p.Ser1527Leu | |
| XM_005255124.4:c.5288C>T | XP_005255181.1:p.Ser1763Leu | |
| XM_005255125.4:c.4916C>T | XP_005255182.1:p.Ser1639Leu | |
| XM_006720848.3:c.5072C>T | XP_006720911.1:p.Ser1691Leu | |
| XM_011522381.2:c.4580C>T | XP_011520683.1:p.Ser1527Leu | |
| XM_017022944.1:c.5327C>T | XP_016878433.1:p.Ser1776Leu | |
| NM_004380.3:c.5333C>T MANE Select | NP_004371.2:p.Ser1778Leu |