Revel Score:
ENST00000310418 (MANE Select)
0.074
ENST00000345807
0.074
ENST00000502877
0.074
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000456 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.176416317G>A , CM000667.2:g.176416317G>A | GRCh38 |
| NC_000005.9:g.175843318G>A , CM000667.1:g.175843318G>A | GRCh37 |
| NC_000005.8:g.175775924G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310418.9:c.47C>T MANE Select | ENSP00000309415.4:p.Pro16Leu | |
| ENST00000345807.7:c.47C>T | ENSP00000310812.4:p.Pro16Leu | |
| ENST00000310418.8:c.47C>T | ENSP00000309415.4:p.Pro16Leu | |
| ENST00000345807.6:c.47C>T | ENSP00000310812.4:p.Pro16Leu | |
| ENST00000502877.1:c.47C>T | ENSP00000427229.1:p.Pro16Leu | |
| ENST00000510734.5:c.47C>T | ENSP00000422978.1:p.Pro16Leu | |
| NM_001834.3:c.47C>T | NP_001825.1:p.Pro16Leu | |
| NM_007097.3:c.47C>T | NP_009028.1:p.Pro16Leu | |
| NR_045724.1:n.252C>T | ||
| NM_001364127.1:c.47C>T | NP_001351056.1:p.Pro16Leu | |
| NR_157088.1:n.222C>T | ||
| XR_001741996.2:n.223C>T | ||
| NM_001834.5:c.47C>T | NP_001825.1:p.Pro16Leu | |
| NM_007097.4:c.47C>T | NP_009028.1:p.Pro16Leu | |
| NR_045724.2:n.253C>T | ||
| NR_157088.2:n.223C>T | ||
| NM_001364127.2:c.47C>T | NP_001351056.1:p.Pro16Leu | |
| NM_007097.5:c.47C>T MANE Select | NP_009028.1:p.Pro16Leu |