Revel Score:
ENST00000298854 (MANE Select)
0.887
ENST00000352508
0.887
ENST00000524487
0.887
ENST00000529341
0.887
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47448924A>G , CM000673.2:g.47448924A>G | GRCh38 |
| NC_000011.9:g.47470476A>G , CM000673.1:g.47470476A>G | GRCh37 |
| NC_000011.8:g.47427052A>G | NCBI36 |
| NG_008312.1:g.5255T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298854.7:c.41T>C MANE Select | ENSP00000298854.2:p.Leu14Pro | |
| ENST00000298854.6:c.41T>C | ENSP00000298854.2:p.Leu14Pro | |
| ENST00000352508.7:c.41T>C | ENSP00000298853.3:p.Leu14Pro | |
| ENST00000524487.5:c.41T>C | ENSP00000435551.2:p.Leu14Pro | |
| ENST00000529341.1:c.41T>C | ENSP00000431732.1:p.Leu14Pro | |
| NM_005055.4:c.41T>C | NP_005046.2:p.Leu14Pro | |
| NM_032645.4:c.41T>C | NP_116034.2:p.Leu14Pro | |
| XM_005253042.2:c.41T>C | XP_005253099.1:p.Leu14Pro | |
| XM_005253043.2:c.41T>C | XP_005253100.1:p.Leu14Pro | |
| XM_011520252.1:c.41T>C | XP_011518554.1:p.Leu14Pro | |
| XM_011520253.1:c.41T>C | XP_011518555.1:p.Leu14Pro | |
| XM_005253042.3:c.41T>C | XP_005253099.1:p.Leu14Pro | |
| XM_005253043.3:c.41T>C | XP_005253100.1:p.Leu14Pro | |
| NM_005055.5:c.41T>C MANE Select | NP_005046.2:p.Leu14Pro | |
| NM_032645.5:c.41T>C | NP_116034.2:p.Leu14Pro |