Linked Data
dbSNP Id:
rs1265975644
gnomAD v2:
18-21495324-G-A
gnomAD v3:
18-23915360-G-A
gnomAD v4:
18-23915360-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23915360G>A , CM000680.2:g.23915360G>A | GRCh38 |
| NC_000018.9:g.21495324G>A , CM000680.1:g.21495324G>A | GRCh37 |
| NC_000018.8:g.19749322G>A | NCBI36 |
| NG_007853.2:g.230763G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.2889G>A MANE Plus Clinical | ENSP00000269217.5:p.Leu963= | |
| ENST00000313654.14:c.7716G>A MANE Select | ENSP00000324532.8:p.Leu2572= | |
| ENST00000649721.1:c.4311G>A | ENSP00000497885.1:p.Leu1437= | |
| ENST00000269217.10:c.2889G>A | ENSP00000269217.5:p.Leu963= | |
| ENST00000313654.13:c.7716G>A | ENSP00000324532.8:p.Leu2572= | |
| ENST00000399516.7:c.7548G>A | ENSP00000382432.2:p.Leu2516= | |
| ENST00000586751.5:c.2494G>A | ||
| ENST00000587184.5:c.2721G>A | ENSP00000466557.1:p.Leu907= | |
| ENST00000588770.5:n.2294G>A | ||
| NM_000227.4:c.2889G>A | NP_000218.3:p.Leu963= | |
| NM_001127717.2:c.7548G>A | NP_001121189.2:p.Leu2516= | |
| NM_001127718.2:c.2721G>A | NP_001121190.2:p.Leu907= | |
| NM_198129.2:c.7716G>A | NP_937762.2:p.Leu2572= | |
| XM_011525978.1:c.7743G>A | XP_011524280.1:p.Leu2581= | |
| XM_011525979.1:c.7734G>A | XP_011524281.1:p.Leu2578= | |
| XM_011525980.1:c.7725G>A | XP_011524282.1:p.Leu2575= | |
| XM_011525981.1:c.7611G>A | XP_011524283.1:p.Leu2537= | |
| XM_011525982.1:c.7446G>A | XP_011524284.1:p.Leu2482= | |
| XM_011525978.2:c.7743G>A | XP_011524280.1:p.Leu2581= | |
| XM_011525979.2:c.7734G>A | XP_011524281.1:p.Leu2578= | |
| XM_011525980.2:c.7725G>A | XP_011524282.1:p.Leu2575= | |
| XM_011525981.2:c.7611G>A | XP_011524283.1:p.Leu2537= | |
| XM_011525982.2:c.7446G>A | XP_011524284.1:p.Leu2482= | |
| XM_017025743.1:c.5595G>A | XP_016881232.1:p.Leu1865= | |
| XM_017025744.1:c.3285G>A | XP_016881233.1:p.Leu1095= | |
| XR_001753199.1:n.7984G>A | ||
| NM_000227.5:c.2889G>A | NP_000218.3:p.Leu963= | |
| NM_001127717.3:c.7548G>A | NP_001121189.2:p.Leu2516= | |
| NM_001127718.3:c.2721G>A | NP_001121190.2:p.Leu907= | |
| NM_198129.3:c.7716G>A | NP_937762.2:p.Leu2572= | |
| NM_000227.6:c.2889G>A MANE Plus Clinical | NP_000218.3:p.Leu963= | |
| NM_001127717.4:c.7548G>A | NP_001121189.2:p.Leu2516= | |
| NM_001127718.4:c.2721G>A | NP_001121190.2:p.Leu907= | |
| NM_198129.4:c.7716G>A MANE Select | NP_937762.2:p.Leu2572= |