dbSNP:
gnomAD v2:
Revel Score:
ENST00000427355
0.082
ENST00000351698 (MANE Select)
0.082
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818622C>T , CM000671.2:g.129818622C>T | GRCh38 |
| NC_000009.11:g.132580901C>T , CM000671.1:g.132580901C>T | GRCh37 |
| NC_000009.10:g.131620722C>T | NCBI36 |
| NG_008049.1:g.10541G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.646G>A MANE Select | ENSP00000345719.4:p.Asp216Asn | |
| ENST00000651202.1:c.742G>A | ENSP00000498222.1:p.Asp248Asn | |
| ENST00000351698.4:c.646G>A | ENSP00000345719.4:p.Asp216Asn | |
| ENST00000473604.2:n.756G>A | ||
| ENST00000474192.1:n.63G>A | ||
| NM_000113.2:c.646G>A | NP_000104.1:p.Asp216Asn | |
| XR_929731.1:n.806G>A | ||
| XR_929731.3:n.674G>A | ||
| NM_000113.3:c.646G>A MANE Select | NP_000104.1:p.Asp216Asn |