Linked Data
ClinVar Variation Id:
288063
dbSNP Id:
rs751895513
ExAC:
12:88452723 T / C
gnomAD v2:
12-88452723-T-C
gnomAD v3:
12-88058946-T-C
gnomAD v4:
12-88058946-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.88058946T>C , CM000674.2:g.88058946T>C | GRCh38 |
| NC_000012.11:g.88452723T>C , CM000674.1:g.88452723T>C | GRCh37 |
| NC_000012.10:g.86976854T>C | NCBI36 |
| NG_008417.1:g.88271A>G | |
| NG_008417.2:g.88271A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309041.12:c.6729A>G | ENSP00000308021.8:p.Gln2243= | |
| ENST00000547691.8:c.3929+952A>G | ||
| ENST00000552810.6:c.6720A>G MANE Select | ENSP00000448012.1:p.Gln2240= | |
| ENST00000671777.2:n.499A>G | ||
| ENST00000672414.2:c.*4726A>G | ENSP00000500729.1:n.*4726A>G | |
| ENST00000672647.1:n.5080A>G | ||
| ENST00000673058.2:c.6597A>G | ENSP00000500665.2:p.Gln2199= | |
| ENST00000674712.1:n.247A>G | ||
| ENST00000674889.1:n.3673A>G | ||
| ENST00000674971.1:c.6720A>G | ENSP00000502194.1:p.Gln2240= | |
| ENST00000675230.1:c.6699A>G | ENSP00000502503.1:p.Gln2233= | |
| ENST00000675408.1:c.6555A>G | ENSP00000502298.1:p.Gln2185= | |
| ENST00000675476.1:c.7581A>G | ENSP00000502161.1:p.Gln2527= | |
| ENST00000675628.1:n.6947A>G | ||
| ENST00000675794.1:c.*4891A>G | ENSP00000502841.1:n.*4891A>G | |
| ENST00000675833.1:c.7488A>G | ENSP00000502559.1:p.Gln2496= | |
| ENST00000675894.1:n.3025A>G | ||
| ENST00000676074.1:c.6555A>G | ENSP00000502079.1:p.Gln2185= | |
| ENST00000676181.1:n.5648A>G | ||
| ENST00000676190.1:n.1159A>G | ||
| ENST00000676363.1:n.12446A>G | ||
| ENST00000309041.11:c.6726A>G | ENSP00000308021.7:p.Gln2242= | |
| ENST00000547691.6:c.3900A>G | ENSP00000446905.1:p.Gln1300= | |
| ENST00000552810.5:c.6720A>G | ENSP00000448012.1:p.Gln2240= | |
| NM_025114.3:c.6720A>G | NP_079390.3:p.Gln2240= | |
| XM_011538756.1:c.7590A>G | XP_011537058.1:p.Gln2530= | |
| XM_011538757.1:c.7590A>G | XP_011537059.1:p.Gln2530= | |
| XM_011538758.1:c.7587A>G | XP_011537060.1:p.Gln2529= | |
| XM_011538759.1:c.7581A>G | XP_011537061.1:p.Gln2527= | |
| XM_011538760.1:c.7467A>G | XP_011537062.1:p.Gln2489= | |
| XM_011538761.1:c.7425A>G | XP_011537063.1:p.Gln2475= | |
| XM_011538762.1:c.6822A>G | XP_011537064.1:p.Gln2274= | |
| XM_011538763.1:c.6729A>G | XP_011537065.1:p.Gln2243= | |
| XM_011538766.1:c.6051A>G | XP_011537068.1:p.Gln2017= | |
| XR_945163.1:n.967+1926T>C | ||
| XM_011538756.3:c.7590A>G | XP_011537058.1:p.Gln2530= | |
| XM_011538757.3:c.7590A>G | XP_011537059.1:p.Gln2530= | |
| XM_011538758.3:c.7587A>G | XP_011537060.1:p.Gln2529= | |
| XM_011538759.2:c.7581A>G | XP_011537061.1:p.Gln2527= | |
| XM_011538760.2:c.7467A>G | XP_011537062.1:p.Gln2489= | |
| XM_011538761.2:c.7425A>G | XP_011537063.1:p.Gln2475= | |
| XM_011538762.3:c.6822A>G | XP_011537064.1:p.Gln2274= | |
| XM_011538763.3:c.6729A>G | XP_011537065.1:p.Gln2243= | |
| XM_011538766.3:c.6051A>G | XP_011537068.1:p.Gln2017= | |
| XM_017019980.2:c.7458A>G | XP_016875469.1:p.Gln2486= | |
| XM_017019981.2:c.7416A>G | XP_016875470.1:p.Gln2472= | |
| XM_017019982.1:c.7590A>G | XP_016875471.1:p.Gln2530= | |
| XM_017019983.2:c.6708A>G | XP_016875472.1:p.Gln2236= | |
| XR_001748869.1:n.7925A>G | ||
| XR_001748870.2:n.7760A>G | ||
| NM_025114.4:c.6720A>G MANE Select | NP_079390.3:p.Gln2240= |