Revel Score:
ENST00000338316 (MANE Select)
0.321
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7520768G>C , CM000667.2:g.7520768G>C | GRCh38 |
| NC_000005.9:g.7520881G>C , CM000667.1:g.7520881G>C | GRCh37 |
| NC_000005.8:g.7573881G>C | NCBI36 |
| NG_046913.1:g.129539G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338316.9:c.439G>C MANE Select | ENSP00000342952.4:p.Val147Leu | |
| ENST00000338316.8:c.439G>C | ENSP00000342952.4:p.Val147Leu | |
| ENST00000484965.5:n.173G>C | ||
| ENST00000498598.1:n.138G>C | ||
| ENST00000537121.5:c.439G>C | ENSP00000444803.2:p.Val147Leu | |
| NM_020546.2:c.439G>C | NP_065433.2:p.Val147Leu | |
| XM_011513942.1:c.439G>C | XP_011512244.1:p.Val147Leu | |
| XR_427657.2:n.453G>C | ||
| XM_011513942.2:c.439G>C | XP_011512244.1:p.Val147Leu | |
| XR_001741973.1:n.453G>C | ||
| XR_001741974.2:n.453G>C | ||
| NM_020546.3:c.439G>C MANE Select | NP_065433.2:p.Val147Leu |