Revel Score:
ENST00000368985 (MANE Select)
0.044
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150755063G>C , CM000663.2:g.150755063G>C | GRCh38 |
| NC_000001.10:g.150727539G>C , CM000663.1:g.150727539G>C | GRCh37 |
| NC_000001.9:g.148994163G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368985.8:c.337C>G MANE Select | ENSP00000357981.3:p.Arg113Gly | |
| ENST00000448301.7:c.337C>G | ENSP00000408414.2:p.Arg113Gly | |
| ENST00000472977.7:c.337C>G | ENSP00000475176.2:p.Arg113Gly | |
| ENST00000480760.2:n.444C>G | ||
| ENST00000483930.2:c.337C>G | ENSP00000475812.2:p.Arg113Gly | |
| ENST00000607427.2:c.337C>G | ENSP00000475557.2:p.Arg113Gly | |
| ENST00000679512.1:c.337C>G | ENSP00000505113.1:p.Arg113Gly | |
| ENST00000679582.1:c.337C>G | ENSP00000504885.1:p.Arg113Gly | |
| ENST00000679898.1:c.127-3055C>G | ENSP00000505326.1:n.127-3055C>G | |
| ENST00000680288.1:c.249+2795C>G | ENSP00000506001.1:n.249+2795C>G | |
| ENST00000680311.1:c.337C>G | ENSP00000505020.1:p.Arg113Gly | |
| ENST00000680471.1:c.337C>G | ENSP00000506603.1:p.Arg113Gly | |
| ENST00000680664.1:c.160C>G | ENSP00000506248.1:p.Arg54Gly | |
| ENST00000680931.1:c.337C>G | ENSP00000504934.1:p.Arg113Gly | |
| ENST00000681444.1:c.337C>G | ENSP00000505359.1:p.Arg113Gly | |
| ENST00000681728.1:c.337C>G | ENSP00000505313.1:p.Arg113Gly | |
| ENST00000368985.7:c.337C>G | ENSP00000357981.3:p.Arg113Gly | |
| ENST00000448301.6:c.249+2795C>G | ENSP00000408414.1:n.249+2795C>G | |
| ENST00000480760.1:n.276C>G | ||
| NM_001199739.1:c.249+2795C>G | NP_001186668.1:n.249+2795C>G | |
| NM_004079.4:c.337C>G | NP_004070.3:p.Arg113Gly | |
| NM_004079.5:c.337C>G MANE Select | NP_004070.3:p.Arg113Gly | |
| NM_001199739.2:c.249+2795C>G | NP_001186668.1:n.249+2795C>G |