Revel Score:
ENST00000360614 (MANE Select)
0.988
ENST00000358403
0.988
ENST00000540670
0.988
gnomAD v4:
Joint Max Group AF
0.00000763 (NFE)
Exomes Max Group AF
0.0000081 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.5696253G>T , CM000681.2:g.5696253G>T | GRCh38 |
| NC_000019.9:g.5696264G>T , CM000681.1:g.5696264G>T | GRCh37 |
| NC_000019.8:g.5647264G>T | NCBI36 |
| NG_033142.1:g.29200C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360614.8:c.1892C>A MANE Select | ENSP00000353826.2:p.Ser631Tyr | |
| ENST00000360614.7:c.1892C>A | ENSP00000353826.2:p.Ser631Tyr | |
| ENST00000540670.6:c.1304C>A | ENSP00000441523.1:p.Ser435Tyr | |
| ENST00000585374.5:c.1550C>A | ENSP00000465585.1:p.Ser517Tyr | |
| ENST00000587552.5:n.1630C>A | ||
| ENST00000590558.5:c.1699C>A | ENSP00000467808.1:n.1699C>A | |
| ENST00000590729.5:c.1502C>A | ENSP00000465139.1:p.Ser501Tyr | |
| ENST00000593119.5:c.1700C>A | ENSP00000468541.1:p.Ser567Tyr | |
| NM_001276479.1:c.1700C>A | NP_001263408.1:p.Ser567Tyr | |
| NM_001276480.1:c.1304C>A | NP_001263409.1:p.Ser435Tyr | |
| NM_004793.3:c.1892C>A | NP_004784.2:p.Ser631Tyr | |
| NR_076392.1:n.1716C>A | ||
| NM_001276479.2:c.1700C>A | NP_001263408.1:p.Ser567Tyr | |
| NM_004793.4:c.1892C>A MANE Select | NP_004784.2:p.Ser631Tyr | |
| NR_076392.2:n.1697C>A |