Linked Data
ClinVar Variation Id:
1578384
ClinVar RCV Id:
RCV002083562
dbSNP Id:
rs1405610639
gnomAD v2:
2-20132107-A-T
gnomAD v4:
2-19932346-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19932346A>T , CM000664.2:g.19932346A>T | GRCh38 |
| NC_000002.11:g.20132107A>T , CM000664.1:g.20132107A>T | GRCh37 |
| NC_000002.10:g.19995588A>T | NCBI36 |
| NG_021212.1:g.62778T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.2760T>A MANE Select | ENSP00000281405.5:p.Leu920= | |
| ENST00000345530.8:c.2793T>A MANE Plus Clinical | ENSP00000314444.5:p.Leu931= | |
| ENST00000281405.8:c.2760T>A | ENSP00000281405.4:p.Leu920= | |
| ENST00000345530.7:c.2793T>A | ENSP00000314444.5:p.Leu931= | |
| ENST00000414212.5:c.*138+37T>A | ENSP00000390802.1:n.*138+37T>A | |
| ENST00000445063.5:c.2024-937T>A | ||
| NM_001006657.1:c.2793T>A | NP_001006658.1:p.Leu931= | |
| NM_020779.3:c.2760T>A | NP_065830.2:p.Leu920= | |
| XM_011533007.1:c.1488T>A | XP_011531309.1:p.Leu496= | |
| XR_426989.2:n.2756+37T>A | ||
| XM_011533007.2:c.1488T>A | XP_011531309.1:p.Leu496= | |
| XR_426989.3:n.2756+37T>A | ||
| NM_001006657.2:c.2793T>A MANE Plus Clinical | NP_001006658.1:p.Leu931= | |
| NM_020779.4:c.2760T>A MANE Select | NP_065830.2:p.Leu920= |