Revel Score:
ENST00000381178
0.104
ENST00000381175
0.104
ENST00000352909 (MANE Select)
0.104
ENST00000333684
0.104
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2169721C>A , CM000673.2:g.2169721C>A | GRCh38 |
| NC_000011.9:g.2190951C>A , CM000673.1:g.2190951C>A | GRCh37 |
| NC_000011.8:g.2147527C>A | NCBI36 |
| NG_008128.1:g.7085G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.241G>T MANE Select | ENSP00000325951.4:p.Val81Leu | |
| ENST00000324155.8:c.91-26G>T | ENSP00000325831.3:n.91-26G>T | |
| ENST00000333684.9:c.241G>T | ENSP00000328814.6:p.Val81Leu | |
| ENST00000352909.7:c.241G>T | ENSP00000325951.3:p.Val81Leu | |
| ENST00000381168.7:c.103-26G>T | ENSP00000370560.3:n.103-26G>T | |
| ENST00000381175.5:c.322G>T | ENSP00000370567.1:p.Val108Leu | |
| ENST00000381178.5:c.334G>T | ENSP00000370571.1:p.Val112Leu | |
| NM_000360.3:c.241G>T | NP_000351.2:p.Val81Leu | |
| NM_199292.2:c.334G>T | NP_954986.2:p.Val112Leu | |
| NM_199293.2:c.322G>T | NP_954987.2:p.Val108Leu | |
| XM_011520335.1:c.253G>T | XP_011518637.1:p.Val85Leu | |
| XM_011520335.2:c.253G>T | XP_011518637.1:p.Val85Leu | |
| NM_000360.4:c.241G>T MANE Select | NP_000351.2:p.Val81Leu | |
| NM_199292.3:c.334G>T | NP_954986.2:p.Val112Leu | |
| NM_199293.3:c.322G>T | NP_954987.2:p.Val108Leu |