gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00051864 (AFR)
Genomes Max Group AF
0.00051864 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.177543660C>T , CM000664.2:g.177543660C>T | GRCh38 |
| NC_000002.11:g.178408388C>T , CM000664.1:g.178408388C>T | GRCh37 |
| NC_000002.10:g.178116634C>T | NCBI36 |
| NG_008968.1:g.155918C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264167.11:c.*5465C>T MANE Select | ENSP00000264167.4:n.*5465C>T | |
| ENST00000637633.2:c.1856-15092C>T | ENSP00000490844.2:n.1856-15092C>T | |
| ENST00000642466.2:c.1856-7703C>T | ENSP00000494433.2:n.1856-7703C>T | |
| ENST00000679459.1:c.1855+19855C>T | ENSP00000506137.1:n.1855+19855C>T | |
| ENST00000679478.1:c.*5465C>T | ENSP00000506484.1:n.*5465C>T | |
| ENST00000679994.1:c.*5465C>T | ENSP00000504957.1:n.*5465C>T | |
| ENST00000680155.1:c.*5465C>T | ENSP00000505333.1:n.*5465C>T | |
| ENST00000681565.1:c.*6575C>T | ENSP00000505620.1:n.*6575C>T | |
| ENST00000264167.8:c.*5465C>T | ENSP00000264167.4:n.*5465C>T | |
| NM_003659.3:c.*5465C>T | NP_003650.1:n.*5465C>T | |
| XM_011512041.1:c.*5465C>T | XP_011510343.1:n.*5465C>T | |
| XM_011512042.1:c.*5465C>T | XP_011510344.1:n.*5465C>T | |
| XM_011512043.1:c.*5465C>T | XP_011510345.1:n.*5465C>T | |
| XM_011512041.2:c.*5465C>T | XP_011510343.1:n.*5465C>T | |
| XM_011512043.2:c.*5465C>T | XP_011510345.1:n.*5465C>T | |
| XR_001739007.2:n.7350C>T | ||
| NM_003659.4:c.*5465C>T MANE Select | NP_003650.1:n.*5465C>T |