Revel Score:
ENST00000272286 (MANE Select)
0.036
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43877786T>G , CM000664.2:g.43877786T>G | GRCh38 |
| NC_000002.11:g.44104925T>G , CM000664.1:g.44104925T>G | GRCh37 |
| NC_000002.10:g.43958429T>G | NCBI36 |
| NG_008884.1:g.43823T>G | |
| NG_008884.2:g.50845T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272286.4:c.1895T>G MANE Select | ENSP00000272286.2:p.Val632Gly | |
| ENST00000272286.2:c.1895T>G | ENSP00000272286.2:p.Val632Gly | |
| NM_022437.2:c.1895T>G | NP_071882.1:p.Val632Gly | |
| XM_005264483.2:c.1892T>G | XP_005264540.1:p.Val631Gly | |
| XM_011533029.1:c.1907T>G | XP_011531331.1:p.Val636Gly | |
| XM_011533030.1:c.1904T>G | XP_011531332.1:p.Val635Gly | |
| XM_011533031.1:c.1679T>G | XP_011531333.1:p.Val560Gly | |
| XR_939707.1:n.2397T>G | ||
| NM_001357321.1:c.1892T>G | NP_001344250.1:p.Val631Gly | |
| XM_011533029.2:c.1907T>G | XP_011531331.1:p.Val636Gly | |
| XM_011533030.2:c.1904T>G | XP_011531332.1:p.Val635Gly | |
| XR_001738891.1:n.2411T>G | ||
| XR_939707.2:n.2411T>G | ||
| NM_022437.3:c.1895T>G MANE Select | NP_071882.1:p.Val632Gly | |
| NM_001357321.2:c.1892T>G | NP_001344250.1:p.Val631Gly |