Linked Data
ClinVar Variation Id:
191547
ClinVar RCV Id:
RCV000171769
RCV000306117
RCV000395598
RCV001082067
RCV001797657
RCV002354430
RCV003965229
dbSNP Id:
rs150312046
ExAC:
11:118007822 C / T
gnomAD v2:
11-118007822-C-T
gnomAD v3:
11-118137107-C-T
gnomAD v4:
11-118137107-C-T
PubMed:
PMID:23861362
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118137107C>T , CM000673.2:g.118137107C>T | GRCh38 |
| NC_000011.9:g.118007822C>T , CM000673.1:g.118007822C>T | GRCh37 |
| NC_000011.8:g.117513032C>T | NCBI36 |
| NG_011710.1:g.20809G>A , LRG_330:g.20809G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324727.9:c.607G>A MANE Select | ENSP00000322460.4:p.Val203Met | |
| ENST00000324727.8:c.607G>A | ENSP00000322460.4:p.Val203Met | |
| ENST00000415030.6:n.750G>A | ||
| ENST00000423160.2:n.241G>A | ||
| ENST00000529878.1:c.205G>A | ENSP00000436343.1:p.Val69Met | |
| ENST00000531550.1:n.672G>A | ||
| NM_001142348.1:c.205G>A | NP_001135820.1:p.Val69Met | |
| NM_001142349.1:c.277G>A | NP_001135821.1:p.Val93Met | |
| NM_174934.3:c.607G>A , LRG_330t1:c.607G>A | NP_777594.1:p.Val203Met | |
| NR_024527.1:n.632G>A | ||
| NM_001142348.2:c.205G>A | NP_001135820.1:p.Val69Met | |
| NM_001142349.2:c.277G>A | NP_001135821.1:p.Val93Met | |
| NR_024527.2:n.596G>A | ||
| NM_174934.4:c.607G>A MANE Select | NP_777594.1:p.Val203Met |