gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00824968 (AFR)
Genomes Max Group AF
0.00824968 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.177543319C>T , CM000664.2:g.177543319C>T | GRCh38 |
| NC_000002.11:g.178408047C>T , CM000664.1:g.178408047C>T | GRCh37 |
| NC_000002.10:g.178116293C>T | NCBI36 |
| NG_008968.1:g.155577C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264167.11:c.*5124C>T MANE Select | ENSP00000264167.4:n.*5124C>T | |
| ENST00000637633.2:c.1856-15433C>T | ENSP00000490844.2:n.1856-15433C>T | |
| ENST00000642466.2:c.1856-8044C>T | ENSP00000494433.2:n.1856-8044C>T | |
| ENST00000679421.1:n.8330C>T | ||
| ENST00000679459.1:c.1855+19514C>T | ENSP00000506137.1:n.1855+19514C>T | |
| ENST00000679478.1:c.*5124C>T | ENSP00000506484.1:n.*5124C>T | |
| ENST00000679994.1:c.*5124C>T | ENSP00000504957.1:n.*5124C>T | |
| ENST00000680028.1:n.8465C>T | ||
| ENST00000680155.1:c.*5124C>T | ENSP00000505333.1:n.*5124C>T | |
| ENST00000680893.1:c.*6349C>T | ENSP00000505929.1:n.*6349C>T | |
| ENST00000681032.1:c.*6479C>T | ENSP00000505205.1:n.*6479C>T | |
| ENST00000681565.1:c.*6234C>T | ENSP00000505620.1:n.*6234C>T | |
| ENST00000681752.1:c.*6871C>T | ENSP00000504994.1:n.*6871C>T | |
| ENST00000681891.1:n.10736C>T | ||
| ENST00000264167.8:c.*5124C>T | ENSP00000264167.4:n.*5124C>T | |
| NM_003659.3:c.*5124C>T | NP_003650.1:n.*5124C>T | |
| XM_011512041.1:c.*5124C>T | XP_011510343.1:n.*5124C>T | |
| XM_011512042.1:c.*5124C>T | XP_011510344.1:n.*5124C>T | |
| XM_011512043.1:c.*5124C>T | XP_011510345.1:n.*5124C>T | |
| XM_011512041.2:c.*5124C>T | XP_011510343.1:n.*5124C>T | |
| XM_011512043.2:c.*5124C>T | XP_011510345.1:n.*5124C>T | |
| XR_001739007.2:n.7009C>T | ||
| NM_003659.4:c.*5124C>T MANE Select | NP_003650.1:n.*5124C>T |