Linked Data
ClinVar Variation Id:
374945
ClinVar RCV Id:
RCV000415680
dbSNP Id:
rs1057519250
gnomAD v4:
2-188994274-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188994274C>T , CM000664.2:g.188994274C>T | GRCh38 |
| NC_000002.11:g.189859000C>T , CM000664.1:g.189859000C>T | GRCh37 |
| NC_000002.10:g.189567245C>T | NCBI36 |
| NG_007404.1:g.24902C>T , LRG_3:g.24902C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1136C>T | ENSP00000415346.2:p.Ala379Val | |
| ENST00000304636.9:c.1235C>T MANE Select | ENSP00000304408.4:p.Ala412Val | |
| ENST00000304636.7:c.1235C>T | ENSP00000304408.3:p.Ala412Val | |
| ENST00000317840.9:c.1235C>T | ENSP00000315243.6:p.Ala412Val | |
| ENST00000450867.1:c.234C>T | ||
| NM_000090.3:c.1235C>T , LRG_3t1:c.1235C>T | NP_000081.1:p.Ala412Val | |
| NM_000090.4:c.1235C>T MANE Select | NP_000081.2:p.Ala412Val |