Revel Score:
ENST00000264595 (MANE Select)
0.753
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177442275C>G , CM000666.2:g.177442275C>G | GRCh38 |
| NC_000004.11:g.178363429C>G , CM000666.1:g.178363429C>G | GRCh37 |
| NC_000004.10:g.178600423C>G | NCBI36 |
| NG_011845.2:g.5229G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.101G>C MANE Select | ENSP00000264595.2:p.Trp34Ser | |
| ENST00000264595.6:c.101G>C | ENSP00000264595.2:p.Trp34Ser | |
| ENST00000506853.5:n.135G>C | ||
| ENST00000510955.5:n.135G>C | ||
| ENST00000511231.1:n.135G>C | ||
| NM_000027.3:c.101G>C | NP_000018.2:p.Trp34Ser | |
| NM_001171988.1:c.101G>C | NP_001165459.1:p.Trp34Ser | |
| NR_033655.1:n.229G>C | ||
| XM_006714123.2:c.101G>C | XP_006714186.1:p.Trp34Ser | |
| XR_001741155.2:n.195G>C | ||
| NM_000027.4:c.101G>C MANE Select | NP_000018.2:p.Trp34Ser | |
| NM_001171988.2:c.101G>C | NP_001165459.1:p.Trp34Ser | |
| NR_033655.2:n.163G>C |