Revel Score:
ENST00000372090 (MANE Select)
0.091
ENST00000539779
0.091
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45343106C>G , CM000663.2:g.45343106C>G | GRCh38 |
| NC_000001.10:g.45808778C>G , CM000663.1:g.45808778C>G | GRCh37 |
| NC_000001.9:g.45581365C>G | NCBI36 |
| NG_008189.1:g.2365G>C , LRG_220:g.2365G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372090.6:c.937C>G MANE Select | ENSP00000361162.5:p.Pro313Ala | |
| ENST00000671898.1:c.541-8595G>C | ENSP00000499896.1:n.541-8595G>C | |
| ENST00000372090.5:c.937C>G | ENSP00000361162.5:p.Pro313Ala | |
| ENST00000495703.5:n.1315C>G | ||
| NM_025077.3:c.937C>G | NP_079353.3:p.Pro313Ala | |
| XM_005270412.2:c.955C>G | XP_005270469.1:p.Pro319Ala | |
| XM_005270413.3:c.799C>G | XP_005270470.1:p.Pro267Ala | |
| XM_011540569.1:c.556C>G | XP_011538871.1:p.Pro186Ala | |
| XR_246230.2:n.1322C>G | ||
| XR_426587.2:n.1142C>G | ||
| XR_946532.1:n.1138C>G | ||
| XM_005270412.4:c.955C>G | XP_005270469.1:p.Pro319Ala | |
| XM_005270413.5:c.799C>G | XP_005270470.1:p.Pro267Ala | |
| XM_011540569.3:c.556C>G | XP_011538871.1:p.Pro186Ala | |
| XM_024452837.1:c.886C>G | XP_024308605.1:p.Pro296Ala | |
| XR_001736951.2:n.1228C>G | ||
| XR_002959287.1:n.1634C>G | ||
| XR_246230.4:n.1232C>G | ||
| XR_426587.4:n.1142C>G | ||
| XR_946532.3:n.1138C>G | ||
| NM_025077.4:c.937C>G MANE Select | NP_079353.3:p.Pro313Ala |