Linked Data
dbSNP Id:
rs145771113
ExAC:
1:173883987 C / T
gnomAD v2:
1-173883987-C-T
gnomAD v3:
1-173914849-C-T
gnomAD v4:
1-173914849-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173914849C>T , CM000663.2:g.173914849C>T | GRCh38 |
| NC_000001.10:g.173883987C>T , CM000663.1:g.173883987C>T | GRCh37 |
| NC_000001.9:g.172150610C>T | NCBI36 |
| NG_012462.1:g.7530G>A , LRG_577:g.7530G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.112G>A MANE Select | ENSP00000356671.3:p.Asp38Asn | |
| ENST00000367698.3:c.112G>A | ENSP00000356671.3:p.Asp38Asn | |
| ENST00000494024.1:n.338G>A | ||
| ENST00000617423.4:c.112G>A | ENSP00000478688.1:p.Asp38Asn | |
| NM_000488.3:c.112G>A , LRG_577t1:c.112G>A | NP_000479.1:p.Asp38Asn | |
| XM_005245198.2:c.-33G>A | XP_005245255.1:n.-33G>A | |
| NM_001365052.1:c.-33G>A | NP_001351981.1:n.-33G>A | |
| NM_000488.4:c.112G>A MANE Select | NP_000479.1:p.Asp38Asn | |
| NM_001365052.2:c.-33G>A | NP_001351981.1:n.-33G>A | |
| NM_001386302.1:c.112G>A | NP_001373231.1:p.Asp38Asn | |
| NM_001386303.1:c.193G>A | NP_001373232.1:p.Asp65Asn | |
| NM_001386304.1:c.112G>A | NP_001373233.1:p.Asp38Asn | |
| NM_001386305.1:c.112G>A | NP_001373234.1:p.Asp38Asn | |
| NM_001386306.1:c.112G>A | NP_001373235.1:p.Asp38Asn |