Revel Score:
ENST00000375715
0.581
ENST00000375708 (MANE Select)
0.581
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91726705A>T , CM000671.2:g.91726705A>T | GRCh38 |
| NC_000009.11:g.94488987A>T , CM000671.1:g.94488987A>T | GRCh37 |
| NC_000009.10:g.93528808A>T | NCBI36 |
| NG_008089.1:g.228458T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.1222T>A MANE Select | ENSP00000364860.3:p.Leu408Met | |
| ENST00000375708.3:c.1222T>A | ENSP00000364860.3:p.Leu408Met | |
| ENST00000375715.5:c.802T>A | ENSP00000364867.1:p.Leu268Met | |
| ENST00000550066.5:n.1690T>A | ||
| NM_004560.3:c.1222T>A | NP_004551.2:p.Leu408Met | |
| XM_005252008.3:c.802T>A | XP_005252065.1:p.Leu268Met | |
| XM_005252009.3:c.19T>A | XP_005252066.1:p.Leu7Met | |
| XM_006717121.2:c.802T>A | XP_006717184.1:p.Leu268Met | |
| XM_011518721.1:c.802T>A | XP_011517023.1:p.Leu268Met | |
| NM_001318204.1:c.1188T>A | NP_001305133.1:p.Ser396= | |
| XM_005252008.4:c.802T>A | XP_005252065.1:p.Leu268Met | |
| XM_006717121.3:c.802T>A | XP_006717184.1:p.Leu268Met | |
| XM_017014762.1:c.1213T>A | XP_016870251.1:p.Leu405Met | |
| XM_017014763.1:c.802T>A | XP_016870252.1:p.Leu268Met | |
| XR_001746315.1:n.1431T>A | ||
| NM_004560.4:c.1222T>A MANE Select | NP_004551.2:p.Leu408Met | |
| NM_001318204.2:c.1188T>A | NP_001305133.1:p.Ser396= |