Linked Data
dbSNP Id:
rs775000854
ExAC:
12:25362742 C / T
gnomAD v2:
12-25362742-C-T
gnomAD v4:
12-25209808-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25209808C>T , CM000674.2:g.25209808C>T | GRCh38 |
| NC_000012.11:g.25362742C>T , CM000674.1:g.25362742C>T | GRCh37 |
| NC_000012.10:g.25254009C>T | NCBI36 |
| NG_007524.1:g.46113G>A | |
| NG_007524.2:g.46196G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000557334.6:c.215G>A | ENSP00000452512.1:p.Cys72Tyr | |
| ENST00000685328.1:c.554G>A | ENSP00000508921.1:p.Cys185Tyr | |
| ENST00000686877.1:c.*525G>A | ENSP00000510431.1:n.*525G>A | |
| ENST00000687356.1:c.*252G>A | ENSP00000510511.1:n.*252G>A | |
| ENST00000688228.1:n.1028G>A | ||
| ENST00000688940.1:c.554G>A | ENSP00000509238.1:p.Cys185Tyr | |
| ENST00000690406.1:c.357G>A | ||
| ENST00000690804.1:c.*515G>A | ENSP00000508568.1:n.*515G>A | |
| ENST00000692768.1:c.356G>A | ENSP00000510254.1:p.Cys119Tyr | |
| ENST00000693229.1:c.479G>A | ENSP00000509223.1:p.Cys160Tyr | |
| ENST00000256078.10:c.*108G>A MANE Plus Clinical | ENSP00000256078.5:n.*108G>A | |
| ENST00000311936.8:c.554G>A MANE Select | ENSP00000308495.3:p.Cys185Tyr | |
| ENST00000256078.8:c.*108G>A | ENSP00000256078.4:n.*108G>A | |
| ENST00000311936.7:c.554G>A | ENSP00000308495.3:p.Cys185Tyr | |
| ENST00000557334.5:c.215G>A | ENSP00000452512.1:p.Cys72Tyr | |
| NM_004985.4:c.554G>A | NP_004976.2:p.Cys185Tyr | |
| NM_033360.3:c.*108G>A | NP_203524.1:n.*108G>A | |
| XM_011520653.1:c.554G>A | XP_011518955.1:p.Cys185Tyr | |
| XM_011520653.3:c.554G>A | XP_011518955.1:p.Cys185Tyr | |
| NM_001369786.1:c.*108G>A | NP_001356715.1:n.*108G>A | |
| NM_001369787.1:c.554G>A | NP_001356716.1:p.Cys185Tyr | |
| NM_004985.5:c.554G>A MANE Select | NP_004976.2:p.Cys185Tyr | |
| NM_033360.4:c.*108G>A MANE Plus Clinical | NP_203524.1:n.*108G>A |