Revel Score:
ENST00000269228 (MANE Select)
0.856
ENST00000412552
0.856
ENST00000540608
0.856
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001298 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00001214 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23554890G>A , CM000680.2:g.23554890G>A | GRCh38 |
| NC_000018.9:g.21134854G>A , CM000680.1:g.21134854G>A | GRCh37 |
| NC_000018.8:g.19388852G>A | NCBI36 |
| NG_012795.1:g.36728C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.1421C>T MANE Select | ENSP00000269228.4:p.Pro474Leu | |
| ENST00000269228.9:c.1421C>T | ENSP00000269228.4:p.Pro474Leu | |
| ENST00000540608.5:n.1335C>T | ||
| ENST00000590301.1:n.96C>T | ||
| ENST00000591051.1:c.703C>T | ||
| NM_000271.4:c.1421C>T | NP_000262.2:p.Pro474Leu | |
| XM_005258277.1:c.1472C>T | XP_005258334.1:p.Pro491Leu | |
| XM_005258278.3:c.1472C>T | XP_005258335.1:p.Pro491Leu | |
| XM_005258279.1:c.1421C>T | XP_005258336.1:p.Pro474Leu | |
| XM_006722479.2:c.1472C>T | XP_006722542.1:p.Pro491Leu | |
| XM_011526015.1:c.1007C>T | XP_011524317.1:p.Pro336Leu | |
| XM_005258278.5:c.1472C>T | XP_005258335.1:p.Pro491Leu | |
| XM_005258279.2:c.1421C>T | XP_005258336.1:p.Pro474Leu | |
| XM_006722479.3:c.1472C>T | XP_006722542.1:p.Pro491Leu | |
| XM_017025784.1:c.1472C>T | XP_016881273.1:p.Pro491Leu | |
| XM_017025785.1:c.1472C>T | XP_016881274.1:p.Pro491Leu | |
| XM_017025786.1:c.1421C>T | XP_016881275.1:p.Pro474Leu | |
| XM_017025787.1:c.1421C>T | XP_016881276.1:p.Pro474Leu | |
| NM_000271.5:c.1421C>T MANE Select | NP_000262.2:p.Pro474Leu |