Linked Data
ClinVar Variation Id:
13575
ClinVar RCV Id:
RCV000014543
dbSNP Id:
rs121918028
ExAC:
6:161143463 G / T
gnomAD v2:
6-161143463-G-T
gnomAD v3:
6-160722431-G-T
gnomAD v4:
6-160722431-G-T
PubMed:
PMID:1986355
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160722431G>T , CM000668.2:g.160722431G>T | GRCh38 |
| NC_000006.11:g.161143463G>T , CM000668.1:g.161143463G>T | GRCh37 |
| NC_000006.10:g.161063453G>T | NCBI36 |
| NG_016200.1:g.25239G>T , LRG_571:g.25239G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297289.9:c.73G>T | ENSP00000516619.1:p.Val25Phe | |
| ENST00000418964.2:c.1171G>T | ENSP00000389424.2:p.Val391Phe | |
| ENST00000706906.1:c.1120G>T | ENSP00000516618.1:p.Val374Phe | |
| ENST00000308192.14:c.1120G>T MANE Select | ENSP00000308938.9:p.Val374Phe | |
| ENST00000297289.8:n.118G>T | ||
| ENST00000308192.13:c.1120G>T | ENSP00000308938.9:p.Val374Phe | |
| NM_000301.3:c.1120G>T , LRG_571t1:c.1120G>T | NP_000292.1:p.Val374Phe | |
| NM_000301.4:c.1120G>T | NP_000292.1:p.Val374Phe | |
| NM_000301.5:c.1120G>T MANE Select | NP_000292.1:p.Val374Phe |