Linked Data
ClinVar Variation Id:
2085608
ClinVar RCV Id:
RCV002996360
dbSNP Id:
rs764015801
ExAC:
7:143018463 A / C
gnomAD v2:
7-143018463-A-C
gnomAD v4:
7-143321370-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321370A>C , CM000669.2:g.143321370A>C | GRCh38 |
| NC_000007.13:g.143018463A>C , CM000669.1:g.143018463A>C | GRCh37 |
| NC_000007.12:g.142728585A>C | NCBI36 |
| NG_009815.1:g.10245A>C | |
| NG_009815.2:g.10245A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.439A>C | ENSP00000498052.2:p.Lys147Gln | |
| ENST00000343257.7:c.439A>C MANE Select | ENSP00000339867.2:p.Lys147Gln | |
| ENST00000432192.6:c.207A>C | ||
| ENST00000650516.1:c.439A>C | ENSP00000498052.1:p.Lys147Gln | |
| ENST00000343257.6:c.439A>C | ENSP00000339867.2:p.Lys147Gln | |
| NM_000083.2:c.439A>C | NP_000074.2:p.Lys147Gln | |
| NR_046453.1:n.526A>C | ||
| XM_011515781.1:c.439A>C | XP_011514083.1:p.Lys147Gln | |
| XM_017011739.1:c.146A>C | XP_016867228.1:p.Gln49Pro | |
| XM_017011740.1:c.146A>C | XP_016867229.1:p.Gln49Pro | |
| NM_000083.3:c.439A>C MANE Select | NP_000074.3:p.Lys147Gln | |
| NR_046453.2:n.541A>C |