Revel Score:
ENST00000259407 (MANE Select)
0.371
ENST00000395051
0.371
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101371346C>G , CM000671.2:g.101371346C>G | GRCh38 |
| NC_000009.11:g.104133628C>G , CM000671.1:g.104133628C>G | GRCh37 |
| NC_000009.10:g.103173449C>G | NCBI36 |
| NG_009774.1:g.18660G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259407.7:c.59G>C MANE Select | ENSP00000259407.2:p.Arg20Pro | |
| ENST00000395051.4:c.59G>C | ENSP00000378491.3:p.Arg20Pro | |
| ENST00000674556.1:c.59G>C | ENSP00000501610.1:p.Arg20Pro | |
| ENST00000674791.1:c.59G>C | ENSP00000501644.1:p.Arg20Pro | |
| ENST00000674909.1:c.59G>C | ENSP00000502812.1:p.Arg20Pro | |
| ENST00000259407.6:c.59G>C | ENSP00000259407.2:p.Arg20Pro | |
| ENST00000395051.3:c.59G>C | ENSP00000378491.3:p.Arg20Pro | |
| NM_001127610.1:c.59G>C | NP_001121082.1:p.Arg20Pro | |
| NM_001701.3:c.59G>C | NP_001692.1:p.Arg20Pro | |
| NM_001127610.2:c.59G>C | NP_001121082.1:p.Arg20Pro | |
| NM_001374715.1:c.59G>C | NP_001361644.1:p.Arg20Pro | |
| NM_001701.4:c.59G>C MANE Select | NP_001692.1:p.Arg20Pro |