Linked Data
ClinVar Variation Id:
2795897
ClinVar RCV Id:
RCV003600788
dbSNP Id:
rs779147312
gnomAD v2:
7-65425983-C-G
gnomAD v4:
7-65960996-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65960996C>G , CM000669.2:g.65960996C>G | GRCh38 |
| NC_000007.13:g.65425983C>G , CM000669.1:g.65425983C>G | GRCh37 |
| NC_000007.12:g.65063418C>G | NCBI36 |
| NG_016197.1:g.26319G>C | |
| NG_051954.1:g.92898C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1857G>C MANE Select | ENSP00000302728.4:p.Ala619= | |
| ENST00000304895.8:c.1857G>C | ENSP00000302728.4:p.Ala619= | |
| ENST00000421103.5:c.1419G>C | ENSP00000391390.1:p.Ala473= | |
| ENST00000430730.5:c.*1124G>C | ENSP00000411859.1:n.*1124G>C | |
| ENST00000447929.5:c.*1237G>C | ENSP00000411262.1:n.*1237G>C | |
| ENST00000466883.5:n.2247G>C | ||
| NM_000181.3:c.1857G>C | NP_000172.2:p.Ala619= | |
| NM_001284290.1:c.1419G>C | NP_001271219.1:p.Ala473= | |
| NM_001293104.1:c.1287G>C | NP_001280033.1:p.Ala429= | |
| NM_001293105.1:c.1200G>C | NP_001280034.1:p.Ala400= | |
| NR_120531.1:n.1903G>C | ||
| XM_005250297.3:c.1704G>C | XP_005250354.1:p.Ala568= | |
| XM_011516113.1:c.1356G>C | XP_011514415.1:p.Ala452= | |
| XM_011516114.1:c.1185G>C | XP_011514416.1:p.Ala395= | |
| XM_005250297.4:c.1704G>C | XP_005250354.1:p.Ala568= | |
| XM_011516114.2:c.1185G>C | XP_011514416.1:p.Ala395= | |
| XM_017012091.1:c.1203G>C | XP_016867580.1:p.Ala401= | |
| XM_017012092.1:c.1134G>C | XP_016867581.1:p.Ala378= | |
| XM_017012093.2:c.1032G>C | XP_016867582.1:p.Ala344= | |
| XR_001744658.2:n.1664G>C | ||
| XR_001744659.2:n.1777G>C | ||
| XR_001744660.2:n.1709G>C | ||
| XR_001744661.2:n.1624G>C | ||
| XR_927461.3:n.1862G>C | ||
| NM_000181.4:c.1857G>C MANE Select | NP_000172.2:p.Ala619= | |
| NM_001284290.2:c.1419G>C | NP_001271219.1:p.Ala473= | |
| NM_001293104.2:c.1287G>C | NP_001280033.1:p.Ala429= | |
| NM_001293105.2:c.1200G>C | NP_001280034.1:p.Ala400= | |
| NR_120531.2:n.1802G>C |