gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.36340011 (NFE)
Genomes Max Group AF
0.36340011 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145790097G>A , CM000663.2:g.145790097G>A | GRCh38 |
| NC_000001.10:g.145644984C>T , CM000663.1:g.145644984C>T | GRCh37 |
| NC_000001.9:g.144356341C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000582693.5:c.103-1131C>T MANE Select | ENSP00000463650.1:n.103-1131C>T | |
| ENST00000582693.4:c.103-1131C>T | ENSP00000463650.1:n.103-1131C>T | |
| NM_014455.3:c.103-1131C>T | NP_055270.1:n.103-1131C>T | |
| XM_005272952.3:c.-49-1131C>T | XP_005273009.1:n.-49-1131C>T | |
| XM_011509419.1:c.103-1131C>T | XP_011507721.1:n.103-1131C>T | |
| XM_005272952.5:c.-49-1131C>T | XP_005273009.1:n.-49-1131C>T | |
| XR_001737118.2:n.302-1131C>T | ||
| NM_014455.4:c.103-1131C>T MANE Select | NP_055270.1:n.103-1131C>T |