Linked Data
ClinVar Variation Id:
2934209
ClinVar RCV Id:
RCV003795959
dbSNP Id:
rs773852672
ExAC:
2:20137593 T / C
gnomAD v2:
2-20137593-T-C
gnomAD v4:
2-19937832-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19937832T>C , CM000664.2:g.19937832T>C | GRCh38 |
| NC_000002.11:g.20137593T>C , CM000664.1:g.20137593T>C | GRCh37 |
| NC_000002.10:g.20001074T>C | NCBI36 |
| NG_021212.1:g.57292A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.2178A>G MANE Select | ENSP00000281405.5:p.Leu726= | |
| ENST00000345530.8:c.2211A>G MANE Plus Clinical | ENSP00000314444.5:p.Leu737= | |
| ENST00000281405.8:c.2178A>G | ENSP00000281405.4:p.Leu726= | |
| ENST00000345530.7:c.2211A>G | ENSP00000314444.5:p.Leu737= | |
| ENST00000414212.5:c.2211A>G | ENSP00000390802.1:p.Leu737= | |
| ENST00000445063.5:c.1654A>G | ||
| ENST00000453014.1:c.816A>G | ENSP00000404409.1:p.Leu272= | |
| NM_001006657.1:c.2211A>G | NP_001006658.1:p.Leu737= | |
| NM_020779.3:c.2178A>G | NP_065830.2:p.Leu726= | |
| XM_011533007.1:c.906A>G | XP_011531309.1:p.Leu302= | |
| XR_426989.2:n.2211A>G | ||
| XM_011533007.2:c.906A>G | XP_011531309.1:p.Leu302= | |
| XR_001738862.1:n.2155A>G | ||
| XR_426989.3:n.2211A>G | ||
| NM_001006657.2:c.2211A>G MANE Plus Clinical | NP_001006658.1:p.Leu737= | |
| NM_020779.4:c.2178A>G MANE Select | NP_065830.2:p.Leu726= |