Revel Score:
ENST00000269228 (MANE Select)
0.913
ENST00000412552
0.913
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23539417A>C , CM000680.2:g.23539417A>C | GRCh38 |
| NC_000018.9:g.21119381A>C , CM000680.1:g.21119381A>C | GRCh37 |
| NC_000018.8:g.19373379A>C | NCBI36 |
| NG_012795.1:g.52201T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.2849T>G MANE Select | ENSP00000269228.4:p.Val950Gly | |
| ENST00000269228.9:c.2849T>G | ENSP00000269228.4:p.Val950Gly | |
| ENST00000591051.1:c.1927T>G | ||
| ENST00000591075.1:n.482T>G | ||
| NM_000271.4:c.2849T>G | NP_000262.2:p.Val950Gly | |
| XM_005258277.1:c.2900T>G | XP_005258334.1:p.Val967Gly | |
| XM_005258278.3:c.2900T>G | XP_005258335.1:p.Val967Gly | |
| XM_005258279.1:c.2849T>G | XP_005258336.1:p.Val950Gly | |
| XM_006722479.2:c.2900T>G | XP_006722542.1:p.Val967Gly | |
| XM_011526015.1:c.2435T>G | XP_011524317.1:p.Val812Gly | |
| XM_005258278.5:c.2900T>G | XP_005258335.1:p.Val967Gly | |
| XM_005258279.2:c.2849T>G | XP_005258336.1:p.Val950Gly | |
| XM_006722479.3:c.2900T>G | XP_006722542.1:p.Val967Gly | |
| XM_017025784.1:c.2900T>G | XP_016881273.1:p.Val967Gly | |
| XM_017025785.1:c.2900T>G | XP_016881274.1:p.Val967Gly | |
| XM_017025786.1:c.2849T>G | XP_016881275.1:p.Val950Gly | |
| XM_017025787.1:c.2849T>G | XP_016881276.1:p.Val950Gly | |
| NM_000271.5:c.2849T>G MANE Select | NP_000262.2:p.Val950Gly |