Revel Score:
ENST00000331782 (MANE Select)
0.510
ENST00000347004
0.510
gnomAD v2:
gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.105149311C>A , CM000676.2:g.105149311C>A | GRCh38 |
| NC_000014.8:g.105615648C>A , CM000676.1:g.105615648C>A | GRCh37 |
| NC_000014.7:g.104686693C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331782.8:c.1612G>T MANE Select | ENSP00000328169.3:p.Asp538Tyr | |
| ENST00000331782.7:c.1612G>T | ENSP00000328169.3:p.Asp538Tyr | |
| ENST00000347004.2:c.1498G>T | ENSP00000328566.2:p.Asp500Tyr | |
| NM_002226.4:c.1612G>T | NP_002217.3:p.Asp538Tyr | |
| NM_145159.2:c.1498G>T | NP_660142.1:p.Asp500Tyr | |
| XM_011536736.1:c.1612G>T | XP_011535038.1:p.Asp538Tyr | |
| XR_001750303.2:n.1673G>T | ||
| NM_002226.5:c.1612G>T MANE Select | NP_002217.3:p.Asp538Tyr | |
| NM_145159.3:c.1498G>T | NP_660142.1:p.Asp500Tyr |