COSMIC:
COSM5019248 (not active)
Revel Score:
ENST00000366898 (MANE Select)
0.627
ENST00000366897
0.627
ENST00000366896
0.627
ENST00000366894
0.627
ENST00000338468
0.627
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00259375 (MID)
Genomes Max Group AF
0.00254477 (AMR)
Exomes Max Group AF
0.0018777 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.161360169G>A , CM000668.2:g.161360169G>A | GRCh38 |
| NC_000006.11:g.161781201G>A , CM000668.1:g.161781201G>A | GRCh37 |
| NC_000006.10:g.161701191G>A | NCBI36 |
| NG_008289.1:g.1372634C>T | |
| NG_008289.2:g.1372634C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338468.8:c.1082C>T | ENSP00000343589.4:n.1082C>T | |
| ENST00000366894.6:c.963C>T | ENSP00000355860.2:n.963C>T | |
| ENST00000366898.6:c.1204C>T MANE Select | ENSP00000355865.1:p.Arg402Cys | |
| ENST00000673871.1:c.1285C>T | ||
| ENST00000674006.1:n.589C>T | ||
| ENST00000674436.1:n.840C>T | ||
| ENST00000338468.7:c.631C>T | ENSP00000343589.3:p.Arg211Cys | |
| ENST00000366894.5:c.631C>T | ENSP00000355860.1:p.Arg211Cys | |
| ENST00000366896.5:c.757C>T | ENSP00000355862.1:p.Arg253Cys | |
| ENST00000366897.5:c.1120C>T | ENSP00000355863.1:p.Arg374Cys | |
| ENST00000366898.5:c.1204C>T | ENSP00000355865.1:p.Arg402Cys | |
| ENST00000479615.5:c.*62-9958C>T | ENSP00000434414.1:n.*62-9958C>T | |
| ENST00000610470.4:c.337C>T | ENSP00000483773.1:p.Arg113Cys | |
| NM_004562.2:c.1204C>T | NP_004553.2:p.Arg402Cys | |
| NM_013987.2:c.1120C>T | NP_054642.2:p.Arg374Cys | |
| NM_013988.2:c.757C>T | NP_054643.2:p.Arg253Cys | |
| XM_011535863.1:c.1201C>T | XP_011534165.1:p.Arg401Cys | |
| XM_017010908.1:c.1318C>T | XP_016866397.1:p.Arg440Cys | |
| XM_017010909.2:c.964C>T | XP_016866398.1:p.Arg322Cys | |
| XM_024446449.1:c.967C>T | XP_024302217.1:p.Arg323Cys | |
| XR_001743443.2:n.1396C>T | ||
| NM_004562.3:c.1204C>T MANE Select | NP_004553.2:p.Arg402Cys | |
| NM_013987.3:c.1120C>T | NP_054642.2:p.Arg374Cys | |
| NM_013988.3:c.757C>T | NP_054643.2:p.Arg253Cys |