Revel Score:
ENST00000237596 (MANE Select)
0.511
ENST00000508588
0.511
ENST00000502363
0.511
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0002407 (EAS)
Exomes Max Group AF
0.00025245 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88075633C>G , CM000666.2:g.88075633C>G | GRCh38 |
| NC_000004.11:g.88996785C>G , CM000666.1:g.88996785C>G | GRCh37 |
| NC_000004.10:g.89215809C>G | NCBI36 |
| NG_008604.1:g.72966C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.2846C>G MANE Select | ENSP00000237596.2:p.Ser949Cys | |
| ENST00000237596.6:c.2846C>G | ENSP00000237596.2:p.Ser949Cys | |
| ENST00000502363.1:c.1100C>G | ENSP00000425289.1:p.Ser367Cys | |
| ENST00000508588.5:c.1100C>G | ENSP00000427131.1:p.Ser367Cys | |
| ENST00000511337.5:n.1098C>G | ||
| ENST00000512858.1:n.1324C>G | ||
| NM_000297.3:c.2846C>G | NP_000288.1:p.Ser949Cys | |
| XM_011532028.1:c.2621C>G | XP_011530330.1:p.Ser874Cys | |
| XM_011532029.1:c.2126C>G | XP_011530331.1:p.Ser709Cys | |
| XM_011532030.1:c.2006C>G | XP_011530332.1:p.Ser669Cys | |
| NR_156488.1:n.2812C>G | ||
| XM_011532028.2:c.2621C>G | XP_011530330.1:p.Ser874Cys | |
| XM_011532030.2:c.2006C>G | XP_011530332.1:p.Ser669Cys | |
| NM_000297.4:c.2846C>G MANE Select | NP_000288.1:p.Ser949Cys | |
| NR_156488.2:n.2824C>G |