gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00019903 (SAS)
Genomes Max Group AF
0.00028305 (SAS)
Exomes Max Group AF
0.00017248 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91775763G>A , CM000671.2:g.91775763G>A | GRCh38 |
| NC_000009.11:g.94538045G>A , CM000671.1:g.94538045G>A | GRCh37 |
| NC_000009.10:g.93577866G>A | NCBI36 |
| NG_008089.1:g.179400C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.153C>T MANE Select | ENSP00000364860.3:p.Asp51= | |
| ENST00000375708.3:c.153C>T | ENSP00000364860.3:p.Asp51= | |
| ENST00000375715.5:c.-268C>T | ENSP00000364867.1:n.-268C>T | |
| ENST00000495386.5:n.416C>T | ||
| ENST00000546883.1:n.355C>T | ||
| ENST00000548585.2:n.19C>T | ||
| ENST00000550066.5:n.621C>T | ||
| NM_004560.3:c.153C>T | NP_004551.2:p.Asp51= | |
| XM_005252008.3:c.-268C>T | XP_005252065.1:n.-268C>T | |
| XM_006717121.2:c.-268C>T | XP_006717184.1:n.-268C>T | |
| XM_011518721.1:c.-268C>T | XP_011517023.1:n.-268C>T | |
| NM_001318204.1:c.153C>T | NP_001305133.1:p.Asp51= | |
| XM_005252008.4:c.-268C>T | XP_005252065.1:n.-268C>T | |
| XM_006717121.3:c.-268C>T | XP_006717184.1:n.-268C>T | |
| XM_017014762.1:c.144C>T | XP_016870251.1:p.Asp48= | |
| XM_017014763.1:c.-268C>T | XP_016870252.1:n.-268C>T | |
| XR_001746315.1:n.396C>T | ||
| NM_004560.4:c.153C>T MANE Select | NP_004551.2:p.Asp51= | |
| NM_001318204.2:c.153C>T | NP_001305133.1:p.Asp51= |