Revel Score:
ENST00000264447 (MANE Select)
0.053
ENST00000409544
0.053
ENST00000409407
0.053
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71427045G>T , CM000664.2:g.71427045G>T | GRCh38 |
| NC_000002.11:g.71654175G>T , CM000664.1:g.71654175G>T | GRCh37 |
| NC_000002.10:g.71507683G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264447.9:c.5176G>T MANE Select | ENSP00000264447.4:p.Val1726Leu | |
| ENST00000264447.8:c.5176G>T | ENSP00000264447.4:p.Val1726Leu | |
| ENST00000409407.4:n.3456G>T | ||
| ENST00000409544.5:c.5176G>T | ENSP00000386433.1:p.Val1726Leu | |
| ENST00000483421.7:n.1070G>T | ||
| ENST00000487638.5:n.3221G>T | ||
| ENST00000493576.6:c.200G>T | ||
| NM_001014972.2:c.5176G>T | NP_001014972.1:p.Val1726Leu | |
| NM_001252612.1:c.5176G>T | NP_001239541.1:p.Val1726Leu | |
| NM_001252613.1:c.5176G>T | NP_001239542.1:p.Val1726Leu | |
| NM_014497.4:c.5176G>T | NP_055312.2:p.Val1726Leu | |
| XM_005264263.1:c.3643G>T | XP_005264320.1:p.Val1215Leu | |
| XM_006711989.1:c.3643G>T | XP_006712052.1:p.Val1215Leu | |
| XM_011532767.1:c.5176G>T | XP_011531069.1:p.Val1726Leu | |
| XM_011532768.1:c.5050G>T | XP_011531070.1:p.Val1684Leu | |
| XM_011532769.1:c.5176G>T | XP_011531071.1:p.Val1726Leu | |
| XR_939678.1:n.4066G>T | ||
| XM_011532768.3:c.5368G>T | XP_011531070.2:p.Val1790Leu | |
| XM_017003809.2:c.5494G>T | XP_016859298.1:p.Val1832Leu | |
| XM_017003810.2:c.5050G>T | XP_016859299.1:p.Val1684Leu | |
| XR_001738706.2:n.3538-1502G>T | ||
| XR_001738707.2:n.3602-1502G>T | ||
| XR_002959264.1:n.3664-4282G>T | ||
| XR_002959265.1:n.3664-1502G>T | ||
| XR_002959266.1:n.5523-1502G>T | ||
| XR_939678.3:n.4315G>T | ||
| NM_014497.5:c.5176G>T MANE Select | NP_055312.2:p.Val1726Leu | |
| NM_001014972.3:c.5176G>T | NP_001014972.1:p.Val1726Leu | |
| NM_001252612.2:c.5176G>T | NP_001239541.1:p.Val1726Leu | |
| NM_001252613.2:c.5176G>T | NP_001239542.1:p.Val1726Leu |