Revel Score:
ENST00000438045
0.846
ENST00000248633 (MANE Select)
0.846
ENST00000428214
0.846
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92496774G>A , CM000669.2:g.92496774G>A | GRCh38 |
| NC_000007.13:g.92126088G>A , CM000669.1:g.92126088G>A | GRCh37 |
| NC_000007.12:g.91964024G>A | NCBI36 |
| NG_008341.1:g.36758C>T | |
| NG_008341.2:g.36758C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.2722C>T MANE Select | ENSP00000248633.4:p.Pro908Ser | |
| ENST00000248633.8:c.2722C>T | ENSP00000248633.4:p.Pro908Ser | |
| ENST00000428214.5:c.2551C>T | ENSP00000394413.1:p.Pro851Ser | |
| ENST00000438045.5:c.1756C>T | ENSP00000410438.1:p.Pro586Ser | |
| ENST00000484913.5:n.2761C>T | ||
| ENST00000496420.5:n.2614C>T | ||
| NM_000466.2:c.2722C>T | NP_000457.1:p.Pro908Ser | |
| NM_001282677.1:c.2551C>T | NP_001269606.1:p.Pro851Ser | |
| NM_001282678.1:c.2098C>T | NP_001269607.1:p.Pro700Ser | |
| XM_005250433.3:c.973C>T | XP_005250490.1:p.Pro325Ser | |
| XR_242246.3:n.2818C>T | ||
| XM_017012319.2:c.973C>T | XP_016867808.1:p.Pro325Ser | |
| XR_001744808.2:n.1749C>T | ||
| XR_242246.5:n.2769C>T | ||
| NM_000466.3:c.2722C>T MANE Select | NP_000457.1:p.Pro908Ser | |
| NM_001282677.2:c.2551C>T | NP_001269606.1:p.Pro851Ser | |
| NM_001282678.2:c.2098C>T | NP_001269607.1:p.Pro700Ser |