Linked Data
ClinVar Variation Id:
347813
dbSNP Id:
rs750564329
ExAC:
4:155507662 T / C
gnomAD v2:
4-155507662-T-C
gnomAD v4:
4-154586510-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154586510T>C , CM000666.2:g.154586510T>C | GRCh38 |
| NC_000004.11:g.155507662T>C , CM000666.1:g.155507662T>C | GRCh37 |
| NC_000004.10:g.155727112T>C | NCBI36 |
| NG_008832.1:g.9236A>G , LRG_557:g.9236A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651975.2:c.919A>G | ENSP00000498441.1:p.Asn307Asp | |
| ENST00000403106.8:c.919A>G MANE Select | ENSP00000385981.3:p.Asn307Asp | |
| ENST00000651975.1:c.919A>G | ENSP00000498441.1:p.Asn307Asp | |
| ENST00000302053.7:c.919A>G | ENSP00000306361.3:p.Asn307Asp | |
| ENST00000403106.7:c.919A>G | ENSP00000385981.3:p.Asn307Asp | |
| ENST00000622532.1:c.643+276A>G | ENSP00000478487.1:n.643+276A>G | |
| NM_000508.3:c.919A>G , LRG_557t1:c.919A>G | NP_000499.1:p.Asn307Asp | |
| NM_021871.2:c.919A>G , LRG_557t2:c.919A>G | NP_068657.1:p.Asn307Asp | |
| NM_000508.4:c.919A>G | NP_000499.1:p.Asn307Asp | |
| NM_021871.3:c.919A>G | NP_068657.1:p.Asn307Asp | |
| NM_021871.4:c.919A>G MANE Select | NP_068657.1:p.Asn307Asp | |
| NM_000508.5:c.919A>G | NP_000499.1:p.Asn307Asp |