Revel Score:
ENST00000310160
0.191
ENST00000539428
0.191
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48751247G>T , CM000681.2:g.48751247G>T | GRCh38 |
| NC_000019.9:g.49254504G>T , CM000681.1:g.49254504G>T | GRCh37 |
| NC_000019.8:g.53946316G>T | NCBI36 |
| NG_007510.1:g.9144C>A | |
| NG_033945.1:g.161G>T | |
| NG_007510.2:g.9144C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645652.2:c.35C>A MANE Select | ENSP00000494643.1:p.Ala12Asp | |
| ENST00000310160.7:c.35C>A | ENSP00000312021.3:p.Ala12Asp | |
| NM_000148.3:c.35C>A | NP_000139.1:p.Ala12Asp | |
| XM_006723127.1:c.404C>A | XP_006723190.1:p.Ala135Asp | |
| NM_001329877.1:c.35C>A | NP_001316806.1:p.Ala12Asp | |
| NM_000148.4:c.35C>A | NP_000139.1:p.Ala12Asp | |
| NM_001384359.1:c.35C>A MANE Select | NP_001371288.1:p.Ala12Asp |