Linked Data
ClinVar Variation Id:
1916376
ClinVar RCV Id:
RCV002590373
dbSNP Id:
rs758981403
ExAC:
2:206992591 T / A
gnomAD v2:
2-206992591-T-A
gnomAD v4:
2-206127867-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206127867T>A , CM000664.2:g.206127867T>A | GRCh38 |
| NC_000002.11:g.206992591T>A , CM000664.1:g.206992591T>A | GRCh37 |
| NC_000002.10:g.206700836T>A | NCBI36 |
| NG_009248.1:g.36597A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233190.11:c.1814A>T MANE Select | ENSP00000233190.5:p.Gln605Leu | |
| ENST00000233190.10:c.1814A>T | ENSP00000233190.5:p.Gln605Leu | |
| ENST00000423725.5:c.1643A>T | ENSP00000397760.1:p.Gln548Leu | |
| ENST00000432169.5:c.1481A>T | ENSP00000409689.1:p.Gln494Leu | |
| ENST00000440274.5:c.1706A>T | ENSP00000409766.1:p.Gln569Leu | |
| ENST00000449699.5:c.1814A>T | ENSP00000399912.1:p.Gln605Leu | |
| ENST00000455934.6:c.1856A>T | ENSP00000392709.2:p.Gln619Leu | |
| ENST00000457011.5:c.1466A>T | ENSP00000400976.1:p.Gln489Leu | |
| ENST00000498520.1:n.286A>T | ||
| NM_001199981.1:c.1706A>T | NP_001186910.1:p.Gln569Leu | |
| NM_001199982.1:c.1481A>T | NP_001186911.1:p.Gln494Leu | |
| NM_001199983.1:c.1643A>T | NP_001186912.1:p.Gln548Leu | |
| NM_001199984.1:c.1856A>T | NP_001186913.1:p.Gln619Leu | |
| NM_005006.6:c.1814A>T | NP_004997.4:p.Gln605Leu | |
| XM_017004188.2:c.1055A>T | XP_016859677.1:p.Gln352Leu | |
| NM_001199981.2:c.1706A>T | NP_001186910.1:p.Gln569Leu | |
| NM_001199982.2:c.1481A>T | NP_001186911.1:p.Gln494Leu | |
| NM_001199983.2:c.1643A>T | NP_001186912.1:p.Gln548Leu | |
| NM_005006.7:c.1814A>T MANE Select | NP_004997.4:p.Gln605Leu | |
| NM_001199984.2:c.1856A>T | NP_001186913.1:p.Gln619Leu |