Linked Data
dbSNP Id:
rs757254472
ExAC:
7:128480084 C / A
gnomAD v2:
7-128480084-C-A
gnomAD v4:
7-128840030-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128840030C>A , CM000669.2:g.128840030C>A | GRCh38 |
| NC_000007.13:g.128480084C>A , CM000669.1:g.128480084C>A | GRCh37 |
| NC_000007.12:g.128267320C>A | NCBI36 |
| NG_011807.1:g.14602C>A , LRG_870:g.14602C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325888.13:c.1419C>A MANE Select | ENSP00000327145.8:p.Asn473Lys | |
| ENST00000325888.12:c.1419C>A | ENSP00000327145.8:p.Asn473Lys | |
| ENST00000346177.6:c.1419C>A | ENSP00000344002.6:p.Asn473Lys | |
| NM_001127487.1:c.1419C>A | NP_001120959.1:p.Asn473Lys | |
| NM_001458.4:c.1419C>A , LRG_870t1:c.1419C>A | NP_001449.3:p.Asn473Lys | |
| NM_001127487.2:c.1419C>A | NP_001120959.1:p.Asn473Lys | |
| NM_001458.5:c.1419C>A MANE Select | NP_001449.3:p.Asn473Lys |