Linked Data
ClinVar Variation Id:
446644
ClinVar RCV Id:
RCV000516065
RCV000578486
RCV000608080
RCV000755748
RCV000851218
RCV001353118
RCV001764511
dbSNP Id:
rs200649783
ExAC:
2:20169317 C / A
gnomAD v2:
2-20169317-C-A
gnomAD v3:
2-19969556-C-A
gnomAD v4:
2-19969556-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19969556C>A , CM000664.2:g.19969556C>A | GRCh38 |
| NC_000002.11:g.20169317C>A , CM000664.1:g.20169317C>A | GRCh37 |
| NC_000002.10:g.20032798C>A | NCBI36 |
| NG_021212.1:g.25568G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000281405.9:c.932G>T MANE Select | ENSP00000281405.5:p.Trp311Leu | |
| ENST00000345530.8:c.932G>T MANE Plus Clinical | ENSP00000314444.5:p.Trp311Leu | |
| ENST00000281405.8:c.932G>T | ENSP00000281405.4:p.Trp311Leu | |
| ENST00000345530.7:c.932G>T | ENSP00000314444.5:p.Trp311Leu | |
| ENST00000414212.5:c.932G>T | ENSP00000390802.1:p.Trp311Leu | |
| ENST00000445063.5:c.469G>T | ||
| NM_001006657.1:c.932G>T | NP_001006658.1:p.Trp311Leu | |
| NM_020779.3:c.932G>T | NP_065830.2:p.Trp311Leu | |
| XR_426989.2:n.965G>T | ||
| XR_939699.1:n.965G>T | ||
| XR_001738862.1:n.965G>T | ||
| XR_426989.3:n.965G>T | ||
| XR_939699.3:n.965G>T | ||
| NM_001006657.2:c.932G>T MANE Plus Clinical | NP_001006658.1:p.Trp311Leu | |
| NM_020779.4:c.932G>T MANE Select | NP_065830.2:p.Trp311Leu |