Linked Data
dbSNP Id:
rs12595292
ExAC:
15:65153690 G / A
gnomAD v2:
15-65153690-G-A
gnomAD v3:
15-64861491-G-A
gnomAD v4:
15-64861491-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64861491G>A , CM000677.2:g.64861491G>A | GRCh38 |
| NC_000015.9:g.65153690G>A , CM000677.1:g.65153690G>A | GRCh37 |
| NC_000015.8:g.62940743G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323544.5:c.399G>A MANE Select | ENSP00000326706.4:p.Lys133= | |
| ENST00000323544.4:c.399G>A | ENSP00000326706.4:p.Lys133= | |
| ENST00000437723.1:c.399G>A | ENSP00000397942.1:p.Lys133= | |
| ENST00000502574.1:n.533G>A | ||
| ENST00000616065.4:c.249G>A | ENSP00000483505.1:p.Lys83= | |
| NM_001195059.1:c.249G>A | NP_001181988.1:p.Lys83= | |
| NM_025201.4:c.399G>A | NP_079477.2:p.Lys133= | |
| NM_025201.5:c.399G>A MANE Select | NP_079477.2:p.Lys133= | |
| NM_001195059.2:c.249G>A | NP_001181988.1:p.Lys83= |