Linked Data
ClinVar Variation Id:
336734
dbSNP Id:
rs201362403
ExAC:
2:62054256 G / A
gnomAD v2:
2-62054256-G-A
gnomAD v3:
2-61827121-G-A
gnomAD v4:
2-61827121-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.61827121G>A , CM000664.2:g.61827121G>A | GRCh38 |
| NC_000002.11:g.62054256G>A , CM000664.1:g.62054256G>A | GRCh37 |
| NC_000002.10:g.61907760G>A | NCBI36 |
| NG_028125.1:g.32023C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000404929.6:c.1989C>T MANE Select | ENSP00000385158.1:p.Val663= | |
| ENST00000404929.5:c.1989C>T | ENSP00000385158.1:p.Val663= | |
| ENST00000405894.3:c.1821C>T | ENSP00000385893.3:p.Val607= | |
| ENST00000418113.5:c.2266C>T | ||
| ENST00000456262.5:c.*1336C>T | ENSP00000396105.1:n.*1336C>T | |
| ENST00000478494.1:n.613C>T | ||
| NM_001201543.1:c.1989C>T | NP_001188472.1:p.Val663= | |
| NM_032180.2:c.1821C>T | NP_115556.2:p.Val607= | |
| NR_037710.1:n.1867C>T | ||
| XR_939724.1:n.3350C>T | ||
| XM_017005072.1:c.1494C>T | XP_016860561.1:p.Val498= | |
| XM_017005073.1:c.1419C>T | XP_016860562.1:p.Val473= | |
| XM_017005074.1:c.1251C>T | XP_016860563.1:p.Val417= | |
| XR_001738972.2:n.1990C>T | ||
| XR_001738973.2:n.1822C>T | ||
| XR_001738974.2:n.1990C>T | ||
| XR_001738976.1:n.2018C>T | ||
| XR_001738977.1:n.1850C>T | ||
| NM_001201543.2:c.1989C>T MANE Select | NP_001188472.1:p.Val663= | |
| NM_032180.3:c.1821C>T | NP_115556.2:p.Val607= | |
| NR_037710.2:n.1784C>T |