Linked Data
ClinVar Variation Id:
423249
dbSNP Id:
rs1064796324
gnomAD v2:
7-50459536-G-A
gnomAD v4:
7-50391838-G-A
COSMIC:
COSM4992957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.50391838G>A , CM000669.2:g.50391838G>A | GRCh38 |
| NC_000007.13:g.50459536G>A , CM000669.1:g.50459536G>A | GRCh37 |
| NC_000007.12:g.50427030G>A | NCBI36 |
| NG_034231.1:g.92756G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642219.2:c.624G>A | ENSP00000496655.2:p.Lys208= | |
| ENST00000698573.1:c.329-8080G>A | ENSP00000513804.1:n.329-8080G>A | |
| ENST00000698574.1:c.885G>A | ENSP00000513805.1:p.Lys295= | |
| ENST00000698575.1:c.422-8080G>A | ENSP00000513806.1:n.422-8080G>A | |
| ENST00000698577.1:n.85+5G>A | ||
| ENST00000331340.8:c.825G>A MANE Select | ENSP00000331614.3:p.Lys275= | |
| ENST00000439701.2:c.699G>A | ENSP00000413025.1:p.Lys233= | |
| ENST00000645066.1:c.438G>A | ENSP00000494055.1:p.Lys146= | |
| ENST00000331340.7:c.825G>A | ENSP00000331614.3:p.Lys275= | |
| ENST00000343574.9:c.564G>A | ENSP00000342750.5:p.Lys188= | |
| ENST00000346667.8:c.41-8080G>A | ENSP00000340080.5:n.41-8080G>A | |
| ENST00000349824.8:c.422-8080G>A | ENSP00000342485.4:n.422-8080G>A | |
| ENST00000357364.8:c.590-8080G>A | ENSP00000349928.4:n.590-8080G>A | |
| ENST00000359197.9:c.699G>A | ENSP00000352123.5:p.Lys233= | |
| ENST00000426121.1:c.110-8080G>A | ENSP00000409588.1:n.110-8080G>A | |
| ENST00000438033.5:c.564G>A | ENSP00000396554.1:p.Lys188= | |
| ENST00000439701.1:c.699G>A | ENSP00000413025.1:p.Lys233= | |
| ENST00000440768.6:c.150G>A | ENSP00000401507.3:p.Lys50= | |
| ENST00000471793.1:n.1044G>A | ||
| ENST00000612658.4:c.295-8277G>A | ENSP00000483016.1:n.295-8277G>A | |
| ENST00000615491.4:c.276G>A | ENSP00000478368.1:p.Lys92= | |
| NM_001220765.2:c.699G>A | NP_001207694.1:p.Lys233= | |
| NM_001220767.2:c.559+5G>A | NP_001207696.1:n.559+5G>A | |
| NM_001220768.2:c.590-8080G>A | NP_001207697.1:n.590-8080G>A | |
| NM_001220770.2:c.433+5G>A | NP_001207699.1:n.433+5G>A | |
| NM_001220771.2:c.422-8080G>A | NP_001207700.1:n.422-8080G>A | |
| NM_001291837.1:c.699G>A | NP_001278766.1:p.Lys233= | |
| NM_001291838.1:c.564G>A | NP_001278767.1:p.Lys188= | |
| NM_001291839.1:c.438G>A | NP_001278768.1:p.Lys146= | |
| NM_001291840.1:c.161-8080G>A | NP_001278769.1:n.161-8080G>A | |
| NM_001291841.1:c.396G>A | NP_001278770.1:p.Lys132= | |
| NM_001291842.1:c.391+5G>A | NP_001278771.1:n.391+5G>A | |
| NM_001291843.1:c.270G>A | NP_001278772.1:p.Lys90= | |
| NM_001291844.1:c.265+5G>A | NP_001278773.1:n.265+5G>A | |
| NM_006060.5:c.825G>A | NP_006051.1:p.Lys275= | |
| XM_011515058.1:c.957G>A | XP_011513360.1:p.Lys319= | |
| XM_011515059.1:c.952+5G>A | XP_011513361.1:n.952+5G>A | |
| XM_011515060.1:c.915G>A | XP_011513362.1:p.Lys305= | |
| XM_011515061.1:c.897G>A | XP_011513363.1:p.Lys299= | |
| XM_011515062.1:c.885G>A | XP_011513364.1:p.Lys295= | |
| XM_011515063.1:c.885G>A | XP_011513365.1:p.Lys295= | |
| XM_011515064.1:c.885G>A | XP_011513366.1:p.Lys295= | |
| XM_011515065.1:c.885G>A | XP_011513367.1:p.Lys295= | |
| XM_011515066.1:c.885G>A | XP_011513368.1:p.Lys295= | |
| XM_011515067.1:c.831G>A | XP_011513369.1:p.Lys277= | |
| XM_011515068.1:c.825G>A | XP_011513370.1:p.Lys275= | |
| XM_011515069.1:c.825G>A | XP_011513371.1:p.Lys275= | |
| XM_011515070.1:c.771G>A | XP_011513372.1:p.Lys257= | |
| XM_011515071.1:c.696G>A | XP_011513373.1:p.Lys232= | |
| XM_011515072.1:c.636G>A | XP_011513374.1:p.Lys212= | |
| XM_011515073.1:c.624G>A | XP_011513375.1:p.Lys208= | |
| XM_011515074.1:c.631+5G>A | XP_011513376.1:n.631+5G>A | |
| XM_011515075.1:c.564G>A | XP_011513377.1:p.Lys188= | |
| XM_011515076.1:c.564G>A | XP_011513378.1:p.Lys188= | |
| XM_011515077.1:c.510G>A | XP_011513379.1:p.Lys170= | |
| XM_011515078.1:c.505+5G>A | XP_011513380.1:n.505+5G>A | |
| XR_927257.1:n.5515+2038C>T | ||
| NM_006060.6:c.825G>A MANE Select | NP_006051.1:p.Lys275= | |
| XM_011515058.2:c.957G>A | XP_011513360.1:p.Lys319= | |
| XM_011515059.3:c.952+5G>A | XP_011513361.1:n.952+5G>A | |
| XM_011515060.2:c.915G>A | XP_011513362.1:p.Lys305= | |
| XM_011515061.3:c.897G>A | XP_011513363.1:p.Lys299= | |
| XM_011515062.2:c.885G>A | XP_011513364.1:p.Lys295= | |
| XM_011515063.2:c.885G>A | XP_011513365.1:p.Lys295= | |
| XM_011515064.3:c.885G>A | XP_011513366.1:p.Lys295= | |
| XM_011515065.2:c.885G>A | XP_011513367.1:p.Lys295= | |
| XM_011515066.2:c.885G>A | XP_011513368.1:p.Lys295= | |
| XM_011515067.3:c.831G>A | XP_011513369.1:p.Lys277= | |
| XM_011515068.2:c.825G>A | XP_011513370.1:p.Lys275= | |
| XM_011515069.2:c.825G>A | XP_011513371.1:p.Lys275= | |
| XM_011515070.2:c.771G>A | XP_011513372.1:p.Lys257= | |
| XM_011515071.2:c.696G>A | XP_011513373.1:p.Lys232= | |
| XM_011515072.2:c.636G>A | XP_011513374.1:p.Lys212= | |
| XM_011515073.2:c.624G>A | XP_011513375.1:p.Lys208= | |
| XM_011515074.2:c.631+5G>A | XP_011513376.1:n.631+5G>A | |
| XM_011515075.2:c.564G>A | XP_011513377.1:p.Lys188= | |
| XM_011515076.2:c.564G>A | XP_011513378.1:p.Lys188= | |
| XM_011515077.2:c.510G>A | XP_011513379.1:p.Lys170= | |
| XM_011515078.2:c.505+5G>A | XP_011513380.1:n.505+5G>A | |
| XM_017011667.1:c.624G>A | XP_016867156.1:p.Lys208= | |
| XM_017011668.1:c.564G>A | XP_016867157.1:p.Lys188= | |
| XM_017011669.1:c.825G>A | XP_016867158.1:p.Lys275= | |
| XM_017011670.1:c.825G>A | XP_016867159.1:p.Lys275= | |
| NM_001220765.3:c.699G>A | NP_001207694.1:p.Lys233= | |
| NM_001291837.2:c.699G>A | NP_001278766.1:p.Lys233= | |
| NM_001291838.2:c.564G>A | NP_001278767.1:p.Lys188= | |
| NM_001291839.2:c.438G>A | NP_001278768.1:p.Lys146= |