Linked Data
ClinVar Variation Id:
2726611
ClinVar RCV Id:
RCV003595440
dbSNP Id:
rs367897914
ExAC:
5:174152000 C / T
gnomAD v3:
5-174724997-C-T
gnomAD v4:
5-174724997-C-T
COSMIC:
COSM3614243
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.174724997C>T , CM000667.2:g.174724997C>T | GRCh38 |
| NC_000005.9:g.174152000C>T , CM000667.1:g.174152000C>T | GRCh37 |
| NC_000005.8:g.174084606C>T | NCBI36 |
| NG_008124.1:g.5426C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239243.7:c.338C>T MANE Select | ENSP00000239243.5:p.Ala113Val | |
| ENST00000239243.6:c.338C>T | ENSP00000239243.5:p.Ala113Val | |
| ENST00000507785.2:c.338C>T | ENSP00000427425.1:p.Ala113Val | |
| NM_002449.4:c.338C>T | NP_002440.2:p.Ala113Val | |
| NM_001363626.1:c.338C>T | NP_001350555.1:p.Ala113Val | |
| NM_002449.5:c.338C>T MANE Select | NP_002440.2:p.Ala113Val | |
| NM_001363626.2:c.338C>T | NP_001350555.1:p.Ala113Val |