Revel Score:
ENST00000375715
0.311
ENST00000375708 (MANE Select)
0.311
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91726597G>T , CM000671.2:g.91726597G>T | GRCh38 |
| NC_000009.11:g.94488879G>T , CM000671.1:g.94488879G>T | GRCh37 |
| NC_000009.10:g.93528700G>T | NCBI36 |
| NG_008089.1:g.228566C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.1330C>A MANE Select | ENSP00000364860.3:p.Leu444Met | |
| ENST00000375708.3:c.1330C>A | ENSP00000364860.3:p.Leu444Met | |
| ENST00000375715.5:c.910C>A | ENSP00000364867.1:p.Leu304Met | |
| ENST00000550066.5:n.1798C>A | ||
| NM_004560.3:c.1330C>A | NP_004551.2:p.Leu444Met | |
| XM_005252008.3:c.910C>A | XP_005252065.1:p.Leu304Met | |
| XM_005252009.3:c.127C>A | XP_005252066.1:p.Leu43Met | |
| XM_006717121.2:c.910C>A | XP_006717184.1:p.Leu304Met | |
| XM_011518721.1:c.910C>A | XP_011517023.1:p.Leu304Met | |
| NM_001318204.1:c.1296C>A | NP_001305133.1:p.Ser432Arg | |
| XM_005252008.4:c.910C>A | XP_005252065.1:p.Leu304Met | |
| XM_006717121.3:c.910C>A | XP_006717184.1:p.Leu304Met | |
| XM_017014762.1:c.1321C>A | XP_016870251.1:p.Leu441Met | |
| XM_017014763.1:c.910C>A | XP_016870252.1:p.Leu304Met | |
| XR_001746315.1:n.1539C>A | ||
| NM_004560.4:c.1330C>A MANE Select | NP_004551.2:p.Leu444Met | |
| NM_001318204.2:c.1296C>A | NP_001305133.1:p.Ser432Arg |