Revel Score:
ENST00000446728
0.062
ENST00000367795
0.005
ENST00000367790
0.005
ENST00000426706
0.005
ENST00000367789
0.005
ENST00000263686 (MANE Select)
0.005
ENST00000544572
0.005
ENST00000367793
0.005
ENST00000367794
0.005
ENST00000367792
0.005
ENST00000367791
0.005
ENST00000367788
0.005
ENST00000367786
0.005
ENST00000458599
0.005
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169596108C>G , CM000663.2:g.169596108C>G | GRCh38 |
| NC_000001.10:g.169565346C>G , CM000663.1:g.169565346C>G | GRCh37 |
| NC_000001.9:g.167831970C>G | NCBI36 |
| NG_012125.1:g.39032G>C | |
| NG_012125.2:g.39032G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263686.11:c.1918G>C MANE Select | ENSP00000263686.5:p.Val640Leu | |
| ENST00000263686.10:c.1918G>C | ENSP00000263686.5:p.Val640Leu | |
| ENST00000367786.6:c.1732G>C | ENSP00000356760.1:p.Val578Leu | |
| ENST00000367788.6:c.1732G>C | ENSP00000356762.1:p.Val578Leu | |
| ENST00000426706.6:c.1915G>C | ENSP00000391694.2:p.Val639Leu | |
| ENST00000458599.6:c.1366G>C | ENSP00000399368.2:p.Val456Leu | |
| NM_003005.3:c.1918G>C | NP_002996.2:p.Val640Leu | |
| XM_005245435.1:c.1918G>C | XP_005245492.1:p.Val640Leu | |
| XM_005245436.2:c.1918G>C | XP_005245493.1:p.Val640Leu | |
| XM_005245438.1:c.1918G>C | XP_005245495.1:p.Val640Leu | |
| XM_005245439.1:c.1918G>C | XP_005245496.1:p.Val640Leu | |
| XM_005245440.1:c.1732G>C | XP_005245497.1:p.Val578Leu | |
| XM_005245435.2:c.1918G>C | XP_005245492.1:p.Val640Leu | |
| XM_005245436.4:c.1918G>C | XP_005245493.1:p.Val640Leu | |
| XM_005245438.2:c.1918G>C | XP_005245495.1:p.Val640Leu | |
| XM_005245439.2:c.1918G>C | XP_005245496.1:p.Val640Leu | |
| XM_005245440.2:c.1732G>C | XP_005245497.1:p.Val578Leu | |
| NM_003005.4:c.1918G>C MANE Select | NP_002996.2:p.Val640Leu |