Linked Data
ClinVar Variation Id:
1615124
ClinVar RCV Id:
RCV002079130
dbSNP Id:
rs185944691
ExAC:
1:243589810 G / A
gnomAD v2:
1-243589810-G-A
gnomAD v3:
1-243426508-G-A
gnomAD v4:
1-243426508-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.243426508G>A , CM000663.2:g.243426508G>A | GRCh38 |
| NC_000001.10:g.243589810G>A , CM000663.1:g.243589810G>A | GRCh37 |
| NC_000001.9:g.241656433G>A | NCBI36 |
| NG_027811.1:g.175504G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366541.8:c.1935G>A MANE Select | ENSP00000355499.3:p.Leu645= | |
| ENST00000366541.7:c.1935G>A | ENSP00000355499.3:p.Leu645= | |
| ENST00000435549.1:c.1038G>A | ENSP00000410200.1:p.Leu346= | |
| ENST00000463042.1:n.142G>A | ||
| NM_006642.3:c.1935G>A | NP_006633.1:p.Leu645= | |
| XM_005273013.3:c.1806G>A | XP_005273070.1:p.Leu602= | |
| XM_005273018.1:c.1512G>A | XP_005273075.1:p.Leu504= | |
| XM_005273021.3:c.1032G>A | XP_005273078.1:p.Leu344= | |
| XM_005273022.2:c.1014G>A | XP_005273079.1:p.Leu338= | |
| XM_006711727.2:c.1965G>A | XP_006711790.1:p.Leu655= | |
| XM_006711728.2:c.1836G>A | XP_006711791.1:p.Leu612= | |
| XM_006711729.2:c.1776G>A | XP_006711792.1:p.Leu592= | |
| XM_011544021.1:c.2061G>A | XP_011542323.1:p.Leu687= | |
| XM_011544022.1:c.2031G>A | XP_011542324.1:p.Leu677= | |
| XM_011544023.1:c.2061G>A | XP_011542325.1:p.Leu687= | |
| XM_011544024.1:c.2061G>A | XP_011542326.1:p.Leu687= | |
| XM_011544025.1:c.1872G>A | XP_011542327.1:p.Leu624= | |
| XM_011544026.1:c.1824G>A | XP_011542328.1:p.Leu608= | |
| XM_011544027.1:c.1647G>A | XP_011542329.1:p.Leu549= | |
| XM_011544028.1:c.1599G>A | XP_011542330.1:p.Leu533= | |
| XM_011544030.1:c.990G>A | XP_011542332.1:p.Leu330= | |
| XR_949128.1:n.2085G>A | ||
| NM_001350246.1:c.1032G>A | NP_001337175.1:p.Leu344= | |
| NM_001350247.1:c.1032G>A | NP_001337176.1:p.Leu344= | |
| NM_001350248.1:c.2031G>A | NP_001337177.1:p.Leu677= | |
| NM_001350249.1:c.1641G>A | NP_001337178.1:p.Leu547= | |
| NM_001350251.1:c.1032G>A | NP_001337180.1:p.Leu344= | |
| NM_006642.4:c.1935G>A | NP_006633.1:p.Leu645= | |
| XM_005273013.5:c.1806G>A | XP_005273070.1:p.Leu602= | |
| XM_005273018.2:c.1512G>A | XP_005273075.1:p.Leu504= | |
| XM_005273022.4:c.1014G>A | XP_005273079.1:p.Leu338= | |
| XM_011544026.3:c.1824G>A | XP_011542328.1:p.Leu608= | |
| XM_011544028.3:c.1599G>A | XP_011542330.1:p.Leu533= | |
| XM_011544030.3:c.990G>A | XP_011542332.1:p.Leu330= | |
| XM_017000104.2:c.1806G>A | XP_016855593.1:p.Leu602= | |
| XM_017000105.2:c.1698G>A | XP_016855594.1:p.Leu566= | |
| XM_024452537.1:c.1737G>A | XP_024308305.1:p.Leu579= | |
| XM_024452539.1:c.1737G>A | XP_024308307.1:p.Leu579= | |
| XM_024452540.1:c.1737G>A | XP_024308308.1:p.Leu579= | |
| XM_024452547.1:c.1641G>A | XP_024308315.1:p.Leu547= | |
| XM_024452548.1:c.1737G>A | XP_024308316.1:p.Leu579= | |
| XM_024452549.1:c.1404G>A | XP_024308317.1:p.Leu468= | |
| XR_002958955.1:n.1977G>A | ||
| XR_002958956.1:n.1977G>A | ||
| XR_002958965.1:n.1868G>A | ||
| NM_006642.5:c.1935G>A MANE Select | NP_006633.1:p.Leu645= | |
| NM_001350246.2:c.1032G>A | NP_001337175.1:p.Leu344= | |
| NM_001350247.2:c.1032G>A | NP_001337176.1:p.Leu344= | |
| NM_001350248.2:c.2031G>A | NP_001337177.1:p.Leu677= | |
| NM_001350249.2:c.1641G>A | NP_001337178.1:p.Leu547= | |
| NM_001350251.2:c.1032G>A | NP_001337180.1:p.Leu344= |