Linked Data
dbSNP Id:
rs372365258
ExAC:
1:197447023 C / T
gnomAD v2:
1-197447023-C-T
gnomAD v3:
1-197477893-C-T
gnomAD v4:
1-197477893-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197477893C>T , CM000663.2:g.197477893C>T | GRCh38 |
| NC_000001.10:g.197447023C>T , CM000663.1:g.197447023C>T | GRCh37 |
| NC_000001.9:g.195713646C>T | NCBI36 |
| NG_008483.1:g.214616C>T | |
| NG_008483.2:g.281432C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.*14C>T MANE Select | ENSP00000356370.3:n.*14C>T | |
| ENST00000367400.7:c.*14C>T | ENSP00000356370.3:n.*14C>T | |
| ENST00000448952.1:c.469C>T | ENSP00000395407.1:n.469C>T | |
| ENST00000484075.5:c.*346C>T | ENSP00000433932.1:n.*346C>T | |
| ENST00000535699.5:c.*14C>T | ENSP00000438786.1:n.*14C>T | |
| ENST00000538660.5:c.*14C>T | ENSP00000438091.1:n.*14C>T | |
| NM_001193640.1:c.*14C>T | NP_001180569.1:n.*14C>T | |
| NM_001257965.1:c.*14C>T | NP_001244894.1:n.*14C>T | |
| NM_001257966.1:c.*14C>T | NP_001244895.1:n.*14C>T | |
| NM_201253.2:c.*14C>T | NP_957705.1:n.*14C>T | |
| NR_047563.1:n.4236C>T | ||
| NR_047564.1:n.4686C>T | ||
| XM_011509366.1:c.*340C>T | XP_011507668.1:n.*340C>T | |
| XM_011509367.1:c.*214C>T | XP_011507669.1:n.*214C>T | |
| XM_011509368.1:c.*14C>T | XP_011507670.1:n.*14C>T | |
| XM_011509369.1:c.*14C>T | XP_011507671.1:n.*14C>T | |
| XM_011509369.2:c.*14C>T | XP_011507671.1:n.*14C>T | |
| XM_017000851.1:c.*14C>T | XP_016856340.1:n.*14C>T | |
| XM_017000852.1:c.*14C>T | XP_016856341.1:n.*14C>T | |
| NM_201253.3:c.*14C>T MANE Select | NP_957705.1:n.*14C>T | |
| NM_001193640.2:c.*14C>T | NP_001180569.1:n.*14C>T | |
| NM_001257965.2:c.*14C>T | NP_001244894.1:n.*14C>T | |
| NR_047563.2:n.4188C>T | ||
| NR_047564.2:n.4638C>T | ||
| NM_001257966.2:c.*14C>T | NP_001244895.1:n.*14C>T |