Linked Data
dbSNP Id:
rs567748971
ExAC:
5:95728961 C / A
gnomAD v2:
5-95728961-C-A
gnomAD v3:
5-96393257-C-A
gnomAD v4:
5-96393257-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96393257C>A , CM000667.2:g.96393257C>A | GRCh38 |
| NC_000005.9:g.95728961C>A , CM000667.1:g.95728961C>A | GRCh37 |
| NC_000005.8:g.95754717C>A | NCBI36 |
| NG_021161.1:g.45025G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.2006G>T MANE Select | ENSP00000308024.2:p.Arg669Leu | |
| ENST00000311106.7:c.2006G>T | ENSP00000308024.2:p.Arg669Leu | |
| ENST00000508626.5:c.1865G>T | ENSP00000421600.1:p.Arg622Leu | |
| ENST00000513085.1:n.1149G>T | ||
| NM_000439.4:c.2006G>T | NP_000430.3:p.Arg669Leu | |
| NM_001177875.1:c.1865G>T | NP_001171346.1:p.Arg622Leu | |
| NR_130776.1:n.354+13605C>A | ||
| NM_000439.5:c.2006G>T MANE Select | NP_000430.3:p.Arg669Leu | |
| NM_001177875.2:c.1865G>T | NP_001171346.1:p.Arg622Leu |