Linked Data
ClinVar Variation Id:
2162719
ClinVar RCV Id:
RCV003091420
dbSNP Id:
rs148548958
ExAC:
18:21508151 G / A
gnomAD v2:
18-21508151-G-A
gnomAD v3:
18-23928187-G-A
gnomAD v4:
18-23928187-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23928187G>A , CM000680.2:g.23928187G>A | GRCh38 |
| NC_000018.9:g.21508151G>A , CM000680.1:g.21508151G>A | GRCh37 |
| NC_000018.8:g.19762149G>A | NCBI36 |
| NG_007853.2:g.243590G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.3415G>A MANE Plus Clinical | ENSP00000269217.5:p.Val1139Ile | |
| ENST00000313654.14:c.8242G>A MANE Select | ENSP00000324532.8:p.Val2748Ile | |
| ENST00000649721.1:c.4837G>A | ENSP00000497885.1:p.Val1613Ile | |
| ENST00000269217.10:c.3415G>A | ENSP00000269217.5:p.Val1139Ile | |
| ENST00000313654.13:c.8242G>A | ENSP00000324532.8:p.Val2748Ile | |
| ENST00000399516.7:c.8074G>A | ENSP00000382432.2:p.Val2692Ile | |
| ENST00000586751.5:c.3020G>A | ||
| ENST00000587184.5:c.3247G>A | ENSP00000466557.1:p.Val1083Ile | |
| ENST00000588770.5:n.2820G>A | ||
| NM_000227.4:c.3415G>A | NP_000218.3:p.Val1139Ile | |
| NM_001127717.2:c.8074G>A | NP_001121189.2:p.Val2692Ile | |
| NM_001127718.2:c.3247G>A | NP_001121190.2:p.Val1083Ile | |
| NM_198129.2:c.8242G>A | NP_937762.2:p.Val2748Ile | |
| XM_011525978.1:c.8269G>A | XP_011524280.1:p.Val2757Ile | |
| XM_011525979.1:c.8260G>A | XP_011524281.1:p.Val2754Ile | |
| XM_011525980.1:c.8251G>A | XP_011524282.1:p.Val2751Ile | |
| XM_011525981.1:c.8137G>A | XP_011524283.1:p.Val2713Ile | |
| XM_011525982.1:c.7972G>A | XP_011524284.1:p.Val2658Ile | |
| XM_011525978.2:c.8269G>A | XP_011524280.1:p.Val2757Ile | |
| XM_011525979.2:c.8260G>A | XP_011524281.1:p.Val2754Ile | |
| XM_011525980.2:c.8251G>A | XP_011524282.1:p.Val2751Ile | |
| XM_011525981.2:c.8137G>A | XP_011524283.1:p.Val2713Ile | |
| XM_011525982.2:c.7972G>A | XP_011524284.1:p.Val2658Ile | |
| XM_017025743.1:c.6121G>A | XP_016881232.1:p.Val2041Ile | |
| XM_017025744.1:c.3811G>A | XP_016881233.1:p.Val1271Ile | |
| XR_001753199.1:n.8510G>A | ||
| NM_000227.5:c.3415G>A | NP_000218.3:p.Val1139Ile | |
| NM_001127717.3:c.8074G>A | NP_001121189.2:p.Val2692Ile | |
| NM_001127718.3:c.3247G>A | NP_001121190.2:p.Val1083Ile | |
| NM_198129.3:c.8242G>A | NP_937762.2:p.Val2748Ile | |
| NM_000227.6:c.3415G>A MANE Plus Clinical | NP_000218.3:p.Val1139Ile | |
| NM_001127717.4:c.8074G>A | NP_001121189.2:p.Val2692Ile | |
| NM_001127718.4:c.3247G>A | NP_001121190.2:p.Val1083Ile | |
| NM_198129.4:c.8242G>A MANE Select | NP_937762.2:p.Val2748Ile |