Linked Data
ClinVar Variation Id:
501480
dbSNP Id:
rs772536111
ExAC:
2:71681132 C / T
gnomAD v2:
2-71681132-C-T
gnomAD v4:
2-71454002-C-T
COSMIC:
COSM5770672
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71454002C>T , CM000664.2:g.71454002C>T | GRCh38 |
| NC_000002.11:g.71681132C>T , CM000664.1:g.71681132C>T | GRCh37 |
| NC_000002.10:g.71534640C>T | NCBI36 |
| NG_008694.1:g.5380C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258104.8:c.4C>T MANE Plus Clinical | ENSP00000258104.3:p.Leu2= | |
| ENST00000258104.7:c.4C>T | ENSP00000258104.3:p.Leu2= | |
| ENST00000409582.7:c.4C>T | ENSP00000386547.3:p.Leu2= | |
| ENST00000409762.5:c.4C>T | ENSP00000387137.1:p.Leu2= | |
| ENST00000413539.6:c.4C>T | ENSP00000407046.2:p.Leu2= | |
| ENST00000429174.6:c.4C>T | ENSP00000398305.2:p.Leu2= | |
| NM_001130976.1:c.4C>T | NP_001124448.1:p.Leu2= | |
| NM_001130977.1:c.4C>T | NP_001124449.1:p.Leu2= | |
| NM_001130978.1:c.4C>T | NP_001124450.1:p.Leu2= | |
| NM_001130979.1:c.4C>T | NP_001124451.1:p.Leu2= | |
| NM_001130980.1:c.4C>T | NP_001124452.1:p.Leu2= | |
| NM_001130981.1:c.4C>T | NP_001124453.1:p.Leu2= | |
| NM_003494.3:c.4C>T | NP_003485.1:p.Leu2= | |
| XM_005264585.3:c.4C>T | XP_005264642.1:p.Leu2= | |
| XM_005264585.5:c.4C>T | XP_005264642.1:p.Leu2= | |
| NM_001130976.2:c.4C>T | NP_001124448.1:p.Leu2= | |
| NM_001130977.2:c.4C>T | NP_001124449.1:p.Leu2= | |
| NM_001130978.2:c.4C>T | NP_001124450.1:p.Leu2= | |
| NM_001130979.2:c.4C>T | NP_001124451.1:p.Leu2= | |
| NM_001130980.2:c.4C>T | NP_001124452.1:p.Leu2= | |
| NM_001130981.2:c.4C>T | NP_001124453.1:p.Leu2= | |
| NM_003494.4:c.4C>T MANE Plus Clinical | NP_003485.1:p.Leu2= |