Linked Data
ClinVar Variation Id:
1612917
ClinVar RCV Id:
RCV002183065
dbSNP Id:
rs1243380901
gnomAD v2:
7-143027986-T-C
gnomAD v4:
7-143330893-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143330893T>C , CM000669.2:g.143330893T>C | GRCh38 |
| NC_000007.13:g.143027986T>C , CM000669.1:g.143027986T>C | GRCh37 |
| NC_000007.12:g.142738108T>C | NCBI36 |
| NG_009815.1:g.19768T>C | |
| NG_009815.2:g.19768T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.975T>C | ENSP00000498052.2:p.Asp325= | |
| ENST00000343257.7:c.975T>C MANE Select | ENSP00000339867.2:p.Asp325= | |
| ENST00000432192.6:c.799T>C | ||
| ENST00000455478.6:c.563T>C | ENSP00000400027.2:n.563T>C | |
| ENST00000650516.1:c.975T>C | ENSP00000498052.1:p.Asp325= | |
| ENST00000343257.6:c.975T>C | ENSP00000339867.2:p.Asp325= | |
| ENST00000432192.5:c.489T>C | ||
| ENST00000455478.5:c.567T>C | ||
| ENST00000495612.1:n.276T>C | ||
| NM_000083.2:c.975T>C | NP_000074.2:p.Asp325= | |
| NR_046453.1:n.1065T>C | ||
| XM_011515781.1:c.975T>C | XP_011514083.1:p.Asp325= | |
| XM_017011739.1:c.525T>C | XP_016867228.1:p.Asp175= | |
| XM_017011740.1:c.525T>C | XP_016867229.1:p.Asp175= | |
| NM_000083.3:c.975T>C MANE Select | NP_000074.3:p.Asp325= | |
| NR_046453.2:n.1080T>C |