Linked Data
dbSNP Id:
rs10790286
ExAC:
11:119054488 C / T
gnomAD v2:
11-119054488-C-T
gnomAD v3:
11-119183779-C-T
gnomAD v4:
11-119183779-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119183779C>T , CM000673.2:g.119183779C>T | GRCh38 |
| NC_000011.9:g.119054488C>T , CM000673.1:g.119054488C>T | GRCh37 |
| NC_000011.8:g.118559698C>T | NCBI36 |
| NG_047185.1:g.20446C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474751.7:c.*340C>T | ENSP00000516518.1:n.*340C>T | |
| ENST00000706727.1:c.*340C>T | ENSP00000516516.1:n.*340C>T | |
| ENST00000706728.1:c.*340C>T | ENSP00000516517.1:n.*340C>T | |
| ENST00000706729.1:c.*340C>T | ENSP00000516519.1:n.*340C>T | |
| ENST00000409109.6:c.*340C>T MANE Select | ENSP00000387334.1:n.*340C>T | |
| ENST00000292199.6:c.*340C>T | ENSP00000292199.2:n.*340C>T | |
| ENST00000409109.5:c.*340C>T | ENSP00000387334.1:n.*340C>T | |
| ENST00000409265.8:c.*340C>T | ENSP00000386858.5:n.*340C>T | |
| ENST00000409991.5:c.*340C>T | ENSP00000386851.1:n.*340C>T | |
| ENST00000525863.1:c.2607-42C>T | ENSP00000433442.1:n.2607-42C>T | |
| NM_001282143.1:c.*340C>T | NP_001269072.1:n.*340C>T | |
| NM_001282144.1:c.*340C>T | NP_001269073.1:n.*340C>T | |
| NM_001282358.1:c.*340C>T | NP_001269287.1:n.*340C>T | |
| NM_024618.3:c.*340C>T | NP_078894.2:n.*340C>T | |
| XM_005271669.1:c.*340C>T | XP_005271726.1:n.*340C>T | |
| XM_005271670.1:c.*340C>T | XP_005271727.1:n.*340C>T | |
| XM_005271671.1:c.*340C>T | XP_005271728.1:n.*340C>T | |
| XM_005271672.1:c.*340C>T | XP_005271729.1:n.*340C>T | |
| XM_006718904.1:c.2607-42C>T | XP_006718967.1:n.2607-42C>T | |
| XM_011542980.1:c.*340C>T | XP_011541282.1:n.*340C>T | |
| NM_001282144.2:c.*340C>T MANE Select | NP_001269073.1:n.*340C>T | |
| NM_001282143.2:c.*340C>T | NP_001269072.1:n.*340C>T | |
| NM_024618.4:c.*340C>T | NP_078894.2:n.*340C>T | |
| NM_001282358.2:c.*340C>T | NP_001269287.1:n.*340C>T |