Revel Score:
ENST00000366898 (MANE Select)
0.929
ENST00000366897
0.929
ENST00000366896
0.929
ENST00000366894
0.929
ENST00000338468
0.929
ENST00000392134
0.929
ENST00000366892
0.929
ENST00000366895
0.929
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002255 (AMR)
Exomes Max Group AF
0.00001779 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.161973401C>T , CM000668.2:g.161973401C>T | GRCh38 |
| NC_000006.11:g.162394433C>T , CM000668.1:g.162394433C>T | GRCh37 |
| NC_000006.10:g.162314423C>T | NCBI36 |
| NG_008289.1:g.759402G>A | |
| NG_008289.2:g.759402G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338468.8:c.513G>A | ENSP00000343589.4:n.513G>A | |
| ENST00000366894.6:c.394G>A | ENSP00000355860.2:n.394G>A | |
| ENST00000366898.6:c.635G>A MANE Select | ENSP00000355865.1:p.Cys212Tyr | |
| ENST00000673871.1:c.630G>A | ||
| ENST00000674232.1:n.653G>A | ||
| ENST00000674436.1:n.271G>A | ||
| ENST00000674501.1:n.742G>A | ||
| ENST00000338468.7:c.62G>A | ENSP00000343589.3:p.Cys21Tyr | |
| ENST00000366892.5:c.635G>A | ENSP00000355858.1:p.Cys212Tyr | |
| ENST00000366894.5:c.62G>A | ENSP00000355860.1:p.Cys21Tyr | |
| ENST00000366896.5:c.188G>A | ENSP00000355862.1:p.Cys63Tyr | |
| ENST00000366897.5:c.551G>A | ENSP00000355863.1:p.Cys184Tyr | |
| ENST00000366898.5:c.635G>A | ENSP00000355865.1:p.Cys212Tyr | |
| ENST00000479615.5:c.398G>A | ENSP00000434414.1:p.Cys133Tyr | |
| NM_004562.2:c.635G>A | NP_004553.2:p.Cys212Tyr | |
| NM_013987.2:c.551G>A | NP_054642.2:p.Cys184Tyr | |
| NM_013988.2:c.188G>A | NP_054643.2:p.Cys63Tyr | |
| XM_011535863.1:c.632G>A | XP_011534165.1:p.Cys211Tyr | |
| XM_011535864.1:c.635G>A | XP_011534166.1:p.Cys212Tyr | |
| XM_011535865.1:c.635G>A | XP_011534167.1:p.Cys212Tyr | |
| XM_011535866.1:c.635G>A | XP_011534168.1:p.Cys212Tyr | |
| XM_011535867.1:c.635G>A | XP_011534169.1:p.Cys212Tyr | |
| XM_017010908.1:c.749G>A | XP_016866397.1:p.Cys250Tyr | |
| XM_017010909.2:c.395G>A | XP_016866398.1:p.Cys132Tyr | |
| XM_024446449.1:c.398G>A | XP_024302217.1:p.Cys133Tyr | |
| XR_001743443.2:n.741G>A | ||
| NM_004562.3:c.635G>A MANE Select | NP_004553.2:p.Cys212Tyr | |
| NM_013987.3:c.551G>A | NP_054642.2:p.Cys184Tyr | |
| NM_013988.3:c.188G>A | NP_054643.2:p.Cys63Tyr |