Revel Score:
ENST00000343257 (MANE Select)
0.875
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143342001A>T , CM000669.2:g.143342001A>T | GRCh38 |
| NC_000007.13:g.143039094A>T , CM000669.1:g.143039094A>T | GRCh37 |
| NC_000007.12:g.142749216A>T | NCBI36 |
| NG_009815.1:g.30876A>T | |
| NG_009815.2:g.30876A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1655A>T | ENSP00000498052.2:p.Gln552Leu | |
| ENST00000343257.7:c.1655A>T MANE Select | ENSP00000339867.2:p.Gln552Leu | |
| ENST00000432192.6:c.1479A>T | ||
| ENST00000343257.6:c.1655A>T | ENSP00000339867.2:p.Gln552Leu | |
| NM_000083.2:c.1655A>T | NP_000074.2:p.Gln552Leu | |
| NR_046453.1:n.1595A>T | ||
| XM_011515781.1:c.1679A>T | XP_011514083.1:p.Gln560Leu | |
| XM_011515782.1:c.401A>T | XP_011514084.1:p.Gln134Leu | |
| XM_011515782.2:c.401A>T | XP_011514084.1:p.Gln134Leu | |
| XM_017011739.1:c.1229A>T | XP_016867228.1:p.Gln410Leu | |
| XM_017011740.1:c.1205A>T | XP_016867229.1:p.Gln402Leu | |
| NM_000083.3:c.1655A>T MANE Select | NP_000074.3:p.Gln552Leu | |
| NR_046453.2:n.1610A>T |