Revel Score:
ENST00000300851
0.330
ENST00000319788
0.330
ENST00000354895
0.330
ENST00000394975 (MANE Select)
0.330
ENST00000529564
0.330
gnomAD v2:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31094624C>T , CM000678.2:g.31094624C>T | GRCh38 |
| NC_000016.9:g.31105945C>T , CM000678.1:g.31105945C>T | GRCh37 |
| NC_000016.8:g.31013446C>T | NCBI36 |
| NG_011564.1:g.5332G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394975.3:c.106G>A MANE Select | ENSP00000378426.2:p.Asp36Asn | |
| ENST00000300851.10:c.106G>A | ENSP00000300851.6:p.Asp36Asn | |
| ENST00000319788.11:c.106G>A | ENSP00000326135.7:p.Asp36Asn | |
| ENST00000354895.4:c.106G>A | ENSP00000346969.4:p.Asp36Asn | |
| ENST00000394975.2:c.106G>A | ENSP00000378426.2:p.Asp36Asn | |
| ENST00000420057.2:c.245+765G>A | ||
| ENST00000498155.1:c.270+765G>A | ENSP00000417662.1:n.270+765G>A | |
| ENST00000529564.1:c.106G>A | ENSP00000431371.1:p.Asp36Asn | |
| ENST00000532364.1:c.106G>A | ENSP00000460316.1:p.Asp36Asn | |
| NM_001311311.1:c.106G>A | NP_001298240.1:p.Asp36Asn | |
| NM_024006.4:c.106G>A | NP_076869.1:p.Asp36Asn | |
| NM_024006.5:c.106G>A | NP_076869.1:p.Asp36Asn | |
| NM_206824.1:c.106G>A | NP_996560.1:p.Asp36Asn | |
| NM_206824.2:c.106G>A | NP_996560.1:p.Asp36Asn | |
| XM_011545944.1:c.106G>A | XP_011544246.1:p.Asp36Asn | |
| XM_011545945.1:c.106G>A | XP_011544247.1:p.Asp36Asn | |
| XR_950848.1:n.894G>A | ||
| NM_024006.6:c.106G>A MANE Select | NP_076869.1:p.Asp36Asn | |
| NM_001311311.2:c.106G>A | NP_001298240.1:p.Asp36Asn | |
| NM_206824.3:c.106G>A | NP_996560.1:p.Asp36Asn |