Linked Data
dbSNP Id:
rs1295365667
gnomAD v2:
7-65426019-C-A
gnomAD v3:
7-65961032-C-A
gnomAD v4:
7-65961032-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65961032C>A , CM000669.2:g.65961032C>A | GRCh38 |
| NC_000007.13:g.65426019C>A , CM000669.1:g.65426019C>A | GRCh37 |
| NC_000007.12:g.65063454C>A | NCBI36 |
| NG_016197.1:g.26283G>T | |
| NG_051954.1:g.92934C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304895.9:c.1821G>T MANE Select | ENSP00000302728.4:p.Gly607= | |
| ENST00000304895.8:c.1821G>T | ENSP00000302728.4:p.Gly607= | |
| ENST00000421103.5:c.1383G>T | ENSP00000391390.1:p.Gly461= | |
| ENST00000430730.5:c.*1088G>T | ENSP00000411859.1:n.*1088G>T | |
| ENST00000447929.5:c.*1201G>T | ENSP00000411262.1:n.*1201G>T | |
| ENST00000466883.5:n.2211G>T | ||
| NM_000181.3:c.1821G>T | NP_000172.2:p.Gly607= | |
| NM_001284290.1:c.1383G>T | NP_001271219.1:p.Gly461= | |
| NM_001293104.1:c.1251G>T | NP_001280033.1:p.Gly417= | |
| NM_001293105.1:c.1164G>T | NP_001280034.1:p.Gly388= | |
| NR_120531.1:n.1867G>T | ||
| XM_005250297.3:c.1668G>T | XP_005250354.1:p.Gly556= | |
| XM_011516113.1:c.1320G>T | XP_011514415.1:p.Gly440= | |
| XM_011516114.1:c.1149G>T | XP_011514416.1:p.Gly383= | |
| XM_005250297.4:c.1668G>T | XP_005250354.1:p.Gly556= | |
| XM_011516114.2:c.1149G>T | XP_011514416.1:p.Gly383= | |
| XM_017012091.1:c.1167G>T | XP_016867580.1:p.Gly389= | |
| XM_017012092.1:c.1098G>T | XP_016867581.1:p.Gly366= | |
| XM_017012093.2:c.996G>T | XP_016867582.1:p.Gly332= | |
| XR_001744658.2:n.1628G>T | ||
| XR_001744659.2:n.1741G>T | ||
| XR_001744660.2:n.1673G>T | ||
| XR_001744661.2:n.1588G>T | ||
| XR_927461.3:n.1826G>T | ||
| NM_000181.4:c.1821G>T MANE Select | NP_000172.2:p.Gly607= | |
| NM_001284290.2:c.1383G>T | NP_001271219.1:p.Gly461= | |
| NM_001293104.2:c.1251G>T | NP_001280033.1:p.Gly417= | |
| NM_001293105.2:c.1164G>T | NP_001280034.1:p.Gly388= | |
| NR_120531.2:n.1766G>T |