Linked Data
ClinVar Variation Id:
646263
ClinVar RCV Id:
RCV000800510
dbSNP Id:
rs771532474
ExAC:
7:143018504 G / C
gnomAD v2:
7-143018504-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321411G>C , CM000669.2:g.143321411G>C | GRCh38 |
| NC_000007.13:g.143018504G>C , CM000669.1:g.143018504G>C | GRCh37 |
| NC_000007.12:g.142728626G>C | NCBI36 |
| NG_009815.1:g.10286G>C | |
| NG_009815.2:g.10286G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.480G>C | ENSP00000498052.2:p.Gln160His | |
| ENST00000343257.7:c.480G>C MANE Select | ENSP00000339867.2:p.Gln160His | |
| ENST00000432192.6:c.248G>C | ||
| ENST00000650516.1:c.480G>C | ENSP00000498052.1:p.Gln160His | |
| ENST00000343257.6:c.480G>C | ENSP00000339867.2:p.Gln160His | |
| NM_000083.2:c.480G>C | NP_000074.2:p.Gln160His | |
| NR_046453.1:n.567G>C | ||
| XM_011515781.1:c.480G>C | XP_011514083.1:p.Gln160His | |
| XM_017011739.1:c.187G>C | XP_016867228.1:p.Val63Leu | |
| XM_017011740.1:c.187G>C | XP_016867229.1:p.Val63Leu | |
| NM_000083.3:c.480G>C MANE Select | NP_000074.3:p.Gln160His | |
| NR_046453.2:n.582G>C |