Linked Data
dbSNP Id:
rs760911646
ExAC:
7:128481009 G / C
gnomAD v2:
7-128481009-G-C
gnomAD v4:
7-128840955-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128840955G>C , CM000669.2:g.128840955G>C | GRCh38 |
| NC_000007.13:g.128481009G>C , CM000669.1:g.128481009G>C | GRCh37 |
| NC_000007.12:g.128268245G>C | NCBI36 |
| NG_011807.1:g.15527G>C , LRG_870:g.15527G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325888.13:c.1798G>C MANE Select | ENSP00000327145.8:p.Glu600Gln | |
| ENST00000325888.12:c.1798G>C | ENSP00000327145.8:p.Glu600Gln | |
| ENST00000346177.6:c.1798G>C | ENSP00000344002.6:p.Glu600Gln | |
| NM_001127487.1:c.1798G>C | NP_001120959.1:p.Glu600Gln | |
| NM_001458.4:c.1798G>C , LRG_870t1:c.1798G>C | NP_001449.3:p.Glu600Gln | |
| NM_001127487.2:c.1798G>C | NP_001120959.1:p.Glu600Gln | |
| NM_001458.5:c.1798G>C MANE Select | NP_001449.3:p.Glu600Gln |