Linked Data
gnomAD v3:
7-65961062-T-G
gnomAD v4:
7-65961062-T-G
MyVariant Identifiers:
chr7:g.65426049T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65961062T>G , CM000669.2:g.65961062T>G | GRCh38 |
| NC_000007.13:g.65426049T>G , CM000669.1:g.65426049T>G | GRCh37 |
| NC_000007.12:g.65063484T>G | NCBI36 |
| NG_016197.1:g.26253A>C | |
| NG_051954.1:g.92964T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1791A>C MANE Select | ENSP00000302728.4:p.Ser597= | |
| ENST00000304895.8:c.1791A>C | ENSP00000302728.4:p.Ser597= | |
| ENST00000421103.5:c.1353A>C | ENSP00000391390.1:p.Ser451= | |
| ENST00000430730.5:c.*1058A>C | ENSP00000411859.1:n.*1058A>C | |
| ENST00000447929.5:c.*1171A>C | ENSP00000411262.1:n.*1171A>C | |
| ENST00000466883.5:n.2181A>C | ||
| NM_000181.3:c.1791A>C | NP_000172.2:p.Ser597= | |
| NM_001284290.1:c.1353A>C | NP_001271219.1:p.Ser451= | |
| NM_001293104.1:c.1221A>C | NP_001280033.1:p.Ser407= | |
| NM_001293105.1:c.1134A>C | NP_001280034.1:p.Ser378= | |
| NR_120531.1:n.1837A>C | ||
| XM_005250297.3:c.1638A>C | XP_005250354.1:p.Ser546= | |
| XM_011516113.1:c.1290A>C | XP_011514415.1:p.Ser430= | |
| XM_011516114.1:c.1119A>C | XP_011514416.1:p.Ser373= | |
| XM_005250297.4:c.1638A>C | XP_005250354.1:p.Ser546= | |
| XM_011516114.2:c.1119A>C | XP_011514416.1:p.Ser373= | |
| XM_017012091.1:c.1137A>C | XP_016867580.1:p.Ser379= | |
| XM_017012092.1:c.1068A>C | XP_016867581.1:p.Ser356= | |
| XM_017012093.2:c.966A>C | XP_016867582.1:p.Ser322= | |
| XR_001744658.2:n.1598A>C | ||
| XR_001744659.2:n.1711A>C | ||
| XR_001744660.2:n.1643A>C | ||
| XR_001744661.2:n.1558A>C | ||
| XR_927461.3:n.1796A>C | ||
| NM_000181.4:c.1791A>C MANE Select | NP_000172.2:p.Ser597= | |
| NM_001284290.2:c.1353A>C | NP_001271219.1:p.Ser451= | |
| NM_001293104.2:c.1221A>C | NP_001280033.1:p.Ser407= | |
| NM_001293105.2:c.1134A>C | NP_001280034.1:p.Ser378= | |
| NR_120531.2:n.1736A>C |