gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000442 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.150972520G>A , CM000665.2:g.150972520G>A | GRCh38 |
| NC_000003.11:g.150690307G>A , CM000665.1:g.150690307G>A | GRCh37 |
| NC_000003.10:g.152172997G>A | NCBI36 |
| NG_009168.1:g.5480C>T , LRG_700:g.5480C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327047.6:c.189C>T MANE Select | ENSP00000322280.1:p.Tyr63= | |
| ENST00000468836.2:c.165C>T | ENSP00000419892.2:p.Tyr55= | |
| ENST00000644099.1:c.30C>T | ENSP00000494762.1:p.Tyr10= | |
| ENST00000645441.1:c.31C>T | ||
| ENST00000327047.5:c.189C>T | ENSP00000322280.1:p.Tyr63= | |
| ENST00000328863.8:c.189C>T | ENSP00000329158.4:p.Tyr63= | |
| ENST00000468836.1:c.-212C>T | ENSP00000419892.1:n.-212C>T | |
| ENST00000472224.1:n.195C>T | ||
| NM_001195794.1:c.189C>T , LRG_700t1:c.189C>T | NP_001182723.1:p.Tyr63= | |
| NM_001256819.1:c.189C>T | NP_001243748.1:p.Tyr63= | |
| NM_174878.2:c.189C>T | NP_777367.1:p.Tyr63= | |
| NR_046380.2:n.480C>T | ||
| XR_924167.1:n.501C>T | ||
| NM_001256819.2:c.189C>T | NP_001243748.1:p.Tyr63= | |
| NM_174878.3:c.189C>T MANE Select | NP_777367.1:p.Tyr63= | |
| NR_046380.3:n.208C>T |