Linked Data
dbSNP Id:
rs1790444687
gnomAD v3:
7-65960939-T-C
gnomAD v4:
7-65960939-T-C
MyVariant Identifiers:
chr7:g.65425926T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65960939T>C , CM000669.2:g.65960939T>C | GRCh38 |
| NC_000007.13:g.65425926T>C , CM000669.1:g.65425926T>C | GRCh37 |
| NC_000007.12:g.65063361T>C | NCBI36 |
| NG_016197.1:g.26376A>G | |
| NG_051954.1:g.92841T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1914A>G MANE Select | ENSP00000302728.4:p.Ser638= | |
| ENST00000304895.8:c.1914A>G | ENSP00000302728.4:p.Ser638= | |
| ENST00000421103.5:c.1476A>G | ENSP00000391390.1:p.Ser492= | |
| ENST00000430730.5:c.*1181A>G | ENSP00000411859.1:n.*1181A>G | |
| ENST00000447929.5:c.*1294A>G | ENSP00000411262.1:n.*1294A>G | |
| ENST00000466883.5:n.2304A>G | ||
| NM_000181.3:c.1914A>G | NP_000172.2:p.Ser638= | |
| NM_001284290.1:c.1476A>G | NP_001271219.1:p.Ser492= | |
| NM_001293104.1:c.1344A>G | NP_001280033.1:p.Ser448= | |
| NM_001293105.1:c.1257A>G | NP_001280034.1:p.Ser419= | |
| NR_120531.1:n.1960A>G | ||
| XM_005250297.3:c.1761A>G | XP_005250354.1:p.Ser587= | |
| XM_011516113.1:c.1413A>G | XP_011514415.1:p.Ser471= | |
| XM_011516114.1:c.1242A>G | XP_011514416.1:p.Ser414= | |
| XM_005250297.4:c.1761A>G | XP_005250354.1:p.Ser587= | |
| XM_011516114.2:c.1242A>G | XP_011514416.1:p.Ser414= | |
| XM_017012091.1:c.1260A>G | XP_016867580.1:p.Ser420= | |
| XM_017012092.1:c.1191A>G | XP_016867581.1:p.Ser397= | |
| XM_017012093.2:c.1089A>G | XP_016867582.1:p.Ser363= | |
| XR_001744658.2:n.1721A>G | ||
| XR_001744659.2:n.1834A>G | ||
| XR_001744660.2:n.1766A>G | ||
| XR_001744661.2:n.1681A>G | ||
| XR_927461.3:n.1919A>G | ||
| NM_000181.4:c.1914A>G MANE Select | NP_000172.2:p.Ser638= | |
| NM_001284290.2:c.1476A>G | NP_001271219.1:p.Ser492= | |
| NM_001293104.2:c.1344A>G | NP_001280033.1:p.Ser448= | |
| NM_001293105.2:c.1257A>G | NP_001280034.1:p.Ser419= | |
| NR_120531.2:n.1859A>G |