Linked Data
ClinVar Variation Id:
217441
ClinVar RCV Id:
RCV000201305
dbSNP Id:
rs752881223
PubMed:
PMID:26406231
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.65558307A>C , CM000679.2:g.65558307A>C | GRCh38 |
| NC_000017.10:g.63554425A>C , CM000679.1:g.63554425A>C | GRCh37 |
| NC_000017.9:g.60984887A>C | NCBI36 |
| NG_012142.1:g.8316T>G , LRG_296:g.8316T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307078.10:c.314T>G MANE Select | ENSP00000302625.5:p.Val105Gly | |
| ENST00000307078.9:c.314T>G | ENSP00000302625.5:p.Val105Gly | |
| ENST00000375702.5:c.314T>G | ENSP00000364854.5:p.Val105Gly | |
| ENST00000544103.2:c.314T>G | ENSP00000441151.2:p.Val105Gly | |
| ENST00000577278.1:c.314T>G | ENSP00000464264.1:p.Val105Gly | |
| ENST00000577662.1:c.629T>G | ||
| ENST00000580513.1:c.314T>G | ENSP00000463761.1:p.Val105Gly | |
| ENST00000585045.1:c.314T>G | ENSP00000463192.1:p.Val105Gly | |
| ENST00000611991.1:c.314T>G | ENSP00000481191.1:p.Val105Gly | |
| ENST00000618960.4:c.314T>G | ENSP00000478916.1:p.Val105Gly | |
| NM_004655.3:c.314T>G , LRG_296t1:c.314T>G | NP_004646.3:p.Val105Gly | |
| XM_011525319.1:c.314T>G | XP_011523621.1:p.Val105Gly | |
| XM_011525320.1:c.314T>G | XP_011523622.1:p.Val105Gly | |
| XM_011525321.1:c.314T>G | XP_011523623.1:p.Val105Gly | |
| XM_011525322.1:c.314T>G | XP_011523624.1:p.Val105Gly | |
| NM_001363813.1:c.314T>G | NP_001350742.1:p.Val105Gly | |
| NM_004655.4:c.314T>G MANE Select | NP_004646.3:p.Val105Gly | |
| XM_011525319.2:c.314T>G | XP_011523621.1:p.Val105Gly | |
| XM_011525321.2:c.314T>G | XP_011523623.1:p.Val105Gly | |
| XM_017025192.1:c.314T>G | XP_016880681.1:p.Val105Gly | |
| XM_017025193.1:c.314T>G | XP_016880682.1:p.Val105Gly |