Revel Score:
ENST00000372090 (MANE Select)
0.800
ENST00000539779
0.800
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45343126C>G , CM000663.2:g.45343126C>G | GRCh38 |
| NC_000001.10:g.45808798C>G , CM000663.1:g.45808798C>G | GRCh37 |
| NC_000001.9:g.45581385C>G | NCBI36 |
| NG_008189.1:g.2345G>C , LRG_220:g.2345G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372090.6:c.957C>G MANE Select | ENSP00000361162.5:p.His319Gln | |
| ENST00000671898.1:c.541-8615G>C | ENSP00000499896.1:n.541-8615G>C | |
| ENST00000372090.5:c.957C>G | ENSP00000361162.5:p.His319Gln | |
| ENST00000495703.5:n.1335C>G | ||
| NM_025077.3:c.957C>G | NP_079353.3:p.His319Gln | |
| XM_005270412.2:c.975C>G | XP_005270469.1:p.His325Gln | |
| XM_005270413.3:c.819C>G | XP_005270470.1:p.His273Gln | |
| XM_011540569.1:c.576C>G | XP_011538871.1:p.His192Gln | |
| XR_246230.2:n.1342C>G | ||
| XR_426587.2:n.1162C>G | ||
| XR_946532.1:n.1158C>G | ||
| XM_005270412.4:c.975C>G | XP_005270469.1:p.His325Gln | |
| XM_005270413.5:c.819C>G | XP_005270470.1:p.His273Gln | |
| XM_011540569.3:c.576C>G | XP_011538871.1:p.His192Gln | |
| XM_024452837.1:c.906C>G | XP_024308605.1:p.His302Gln | |
| XR_001736951.2:n.1248C>G | ||
| XR_002959287.1:n.1654C>G | ||
| XR_246230.4:n.1252C>G | ||
| XR_426587.4:n.1162C>G | ||
| XR_946532.3:n.1158C>G | ||
| NM_025077.4:c.957C>G MANE Select | NP_079353.3:p.His319Gln |