Linked Data
ClinVar Variation Id:
298223
ClinVar RCV Id:
RCV000294673
RCV000315923
RCV000349548
RCV000389153
RCV001099679
RCV001424033
RCV003888704
dbSNP Id:
rs202127235
ExAC:
1:94466604 C / T
gnomAD v2:
1-94466604-C-T
gnomAD v3:
1-94001048-C-T
gnomAD v4:
1-94001048-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94001048C>T , CM000663.2:g.94001048C>T | GRCh38 |
| NC_000001.10:g.94466604C>T , CM000663.1:g.94466604C>T | GRCh37 |
| NC_000001.9:g.94239192C>T | NCBI36 |
| NG_009073.1:g.125102G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.6340G>A MANE Select | ENSP00000359245.3:p.Val2114Met | |
| ENST00000370225.3:c.6340G>A | ENSP00000359245.3:p.Val2114Met | |
| ENST00000536513.5:c.2716G>A | ENSP00000439707.2:p.Val906Met | |
| NM_000350.2:c.6340G>A | NP_000341.2:p.Val2114Met | |
| NM_000350.3:c.6340G>A MANE Select | NP_000341.2:p.Val2114Met |