Linked Data
dbSNP Id:
rs762735395
ExAC:
6:80816585 G / A
gnomAD v2:
6-80816585-G-A
gnomAD v3:
6-80106868-G-A
gnomAD v4:
6-80106868-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80106868G>A , CM000668.2:g.80106868G>A | GRCh38 |
| NC_000006.11:g.80816585G>A , CM000668.1:g.80816585G>A | GRCh37 |
| NC_000006.10:g.80873304G>A | NCBI36 |
| NG_009775.1:g.5242G>A | |
| NG_009775.2:g.5242G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320393.9:c.175G>A MANE Select | ENSP00000318351.5:p.Asp59Asn | |
| ENST00000320393.8:c.175G>A | ENSP00000318351.5:p.Asp59Asn | |
| ENST00000356489.9:c.175G>A | ENSP00000348880.5:p.Asp59Asn | |
| ENST00000369760.8:c.175G>A | ENSP00000358775.4:p.Asp59Asn | |
| NM_000056.3:c.175G>A | NP_000047.1:p.Asp59Asn | |
| NM_183050.2:c.175G>A | NP_898871.1:p.Asp59Asn | |
| XM_005248756.3:c.175G>A | XP_005248813.1:p.Asp59Asn | |
| XM_006715542.2:c.-15+185G>A | XP_006715605.1:n.-15+185G>A | |
| XM_011536023.1:c.175G>A | XP_011534325.1:p.Asp59Asn | |
| XM_011536024.1:c.175G>A | XP_011534326.1:p.Asp59Asn | |
| XM_011536025.1:c.175G>A | XP_011534327.1:p.Asp59Asn | |
| XM_011536027.1:c.175G>A | XP_011534329.1:p.Asp59Asn | |
| NM_000056.4:c.175G>A | NP_000047.1:p.Asp59Asn | |
| NM_001318975.1:c.-15+185G>A | NP_001305904.1:n.-15+185G>A | |
| NM_183050.3:c.175G>A | NP_898871.1:p.Asp59Asn | |
| NR_134945.1:n.259G>A | ||
| XM_005248756.5:c.175G>A | XP_005248813.1:p.Asp59Asn | |
| XM_011536023.3:c.175G>A | XP_011534325.1:p.Asp59Asn | |
| XM_011536024.3:c.175G>A | XP_011534326.1:p.Asp59Asn | |
| XM_011536025.3:c.175G>A | XP_011534327.1:p.Asp59Asn | |
| XR_001743546.2:n.205G>A | ||
| XR_001743547.2:n.205G>A | ||
| XR_001743548.2:n.205G>A | ||
| XR_001743549.2:n.205G>A | ||
| XR_002956292.1:n.205G>A | ||
| NM_183050.4:c.175G>A MANE Select | NP_898871.1:p.Asp59Asn | |
| NR_134945.2:n.198G>A | ||
| NM_000056.5:c.175G>A | NP_000047.1:p.Asp59Asn |