Revel Score:
ENST00000503335 (MANE Select)
0.733
ENST00000274473
0.733
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.127435481G>C , CM000667.2:g.127435481G>C | GRCh38 |
| NC_000005.9:g.126771173G>C , CM000667.1:g.126771173G>C | GRCh37 |
| NC_000005.8:g.126799072G>C | NCBI36 |
| NG_032072.1:g.149718G>C | |
| NG_032072.2:g.149718G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503335.7:c.2096G>C MANE Select | ENSP00000423354.2:p.Cys699Ser | |
| ENST00000274473.6:c.2096G>C | ENSP00000274473.6:p.Cys699Ser | |
| ENST00000503335.6:c.2096G>C | ENSP00000423354.2:p.Cys699Ser | |
| ENST00000506709.1:n.337G>C | ||
| NM_001256545.1:c.2096G>C | NP_001243474.1:p.Cys699Ser | |
| NM_032446.2:c.2096G>C | NP_115822.1:p.Cys699Ser | |
| XM_011543692.1:c.2096G>C | XP_011541994.1:p.Cys699Ser | |
| XM_011543693.1:c.2096G>C | XP_011541995.1:p.Cys699Ser | |
| XM_011543694.1:c.2096G>C | XP_011541996.1:p.Cys699Ser | |
| XM_017009987.1:c.2261G>C | XP_016865476.1:p.Cys754Ser | |
| XM_017009988.1:c.956G>C | XP_016865477.1:p.Cys319Ser | |
| NM_001256545.2:c.2096G>C MANE Select | NP_001243474.1:p.Cys699Ser | |
| NM_032446.3:c.2096G>C | NP_115822.1:p.Cys699Ser |