Linked Data
ClinVar Variation Id:
1947234
ClinVar RCV Id:
RCV002685447
dbSNP Id:
rs2139702224
gnomAD v3:
14-50180609-T-G
gnomAD v4:
14-50180609-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50180609T>G , CM000676.2:g.50180609T>G | GRCh38 |
| NC_000014.8:g.50647327T>G , CM000676.1:g.50647327T>G | GRCh37 |
| NC_000014.7:g.49717077T>G | NCBI36 |
| NG_051073.1:g.56085A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.932A>C MANE Select | ENSP00000216373.5:p.Lys311Thr | |
| ENST00000216373.9:c.932A>C | ENSP00000216373.5:p.Lys311Thr | |
| ENST00000543680.5:c.932A>C | ENSP00000445328.1:p.Lys311Thr | |
| ENST00000555794.2:c.46A>C | ||
| NM_006939.2:c.932A>C | NP_008870.2:p.Lys311Thr | |
| XM_005268021.1:c.752A>C | XP_005268078.1:p.Lys251Thr | |
| XM_011537103.1:c.893A>C | XP_011535405.1:p.Lys298Thr | |
| XM_011537104.1:c.932A>C | XP_011535406.1:p.Lys311Thr | |
| XR_943842.1:n.954-3178T>G | ||
| XR_943843.1:n.954-3178T>G | ||
| NM_006939.3:c.932A>C | NP_008870.2:p.Lys311Thr | |
| NM_006939.4:c.932A>C MANE Select | NP_008870.2:p.Lys311Thr |