Revel Score:
ENST00000375715
0.675
ENST00000375708 (MANE Select)
0.675
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91726694G>C , CM000671.2:g.91726694G>C | GRCh38 |
| NC_000009.11:g.94488976G>C , CM000671.1:g.94488976G>C | GRCh37 |
| NC_000009.10:g.93528797G>C | NCBI36 |
| NG_008089.1:g.228469C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.1233C>G MANE Select | ENSP00000364860.3:p.Ser411Arg | |
| ENST00000375708.3:c.1233C>G | ENSP00000364860.3:p.Ser411Arg | |
| ENST00000375715.5:c.813C>G | ENSP00000364867.1:p.Ser271Arg | |
| ENST00000550066.5:n.1701C>G | ||
| NM_004560.3:c.1233C>G | NP_004551.2:p.Ser411Arg | |
| XM_005252008.3:c.813C>G | XP_005252065.1:p.Ser271Arg | |
| XM_005252009.3:c.30C>G | XP_005252066.1:p.Ser10Arg | |
| XM_006717121.2:c.813C>G | XP_006717184.1:p.Ser271Arg | |
| XM_011518721.1:c.813C>G | XP_011517023.1:p.Ser271Arg | |
| NM_001318204.1:c.1199C>G | NP_001305133.1:p.Ala400Gly | |
| XM_005252008.4:c.813C>G | XP_005252065.1:p.Ser271Arg | |
| XM_006717121.3:c.813C>G | XP_006717184.1:p.Ser271Arg | |
| XM_017014762.1:c.1224C>G | XP_016870251.1:p.Ser408Arg | |
| XM_017014763.1:c.813C>G | XP_016870252.1:p.Ser271Arg | |
| XR_001746315.1:n.1442C>G | ||
| NM_004560.4:c.1233C>G MANE Select | NP_004551.2:p.Ser411Arg | |
| NM_001318204.2:c.1199C>G | NP_001305133.1:p.Ala400Gly |