Linked Data
ClinVar Variation Id:
194714
ClinVar RCV Id:
RCV000175148
dbSNP Id:
rs530357590
ExAC:
7:128033072 G / A
gnomAD v2:
7-128033072-G-A
gnomAD v3:
7-128393018-G-A
gnomAD v4:
7-128393018-G-A
COSMIC:
COSM289019
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128393018G>A , CM000669.2:g.128393018G>A | GRCh38 |
| NC_000007.13:g.128033072G>A , CM000669.1:g.128033072G>A | GRCh37 |
| NC_000007.12:g.127820308G>A | NCBI36 |
| NG_009194.1:g.21965C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348127.11:c.1681C>T | ENSP00000265385.8:p.Arg561Trp | |
| ENST00000484496.6:n.1681C>T | ||
| ENST00000338791.11:c.1789C>T MANE Select | ENSP00000345096.6:p.Arg597Trp | |
| ENST00000648462.1:c.1438C>T | ||
| ENST00000338791.10:c.1789C>T | ENSP00000345096.6:p.Arg597Trp | |
| ENST00000348127.10:c.1681C>T | ENSP00000265385.8:p.Arg561Trp | |
| ENST00000354269.9:c.1759C>T | ENSP00000346219.5:p.Arg587Trp | |
| ENST00000419067.6:c.1690C>T | ENSP00000399400.2:p.Arg564Trp | |
| ENST00000469328.5:c.1554C>T | ||
| ENST00000470772.5:c.1531C>T | ENSP00000417296.1:p.Arg511Trp | |
| ENST00000480861.5:c.1519C>T | ENSP00000420185.1:p.Arg507Trp | |
| ENST00000484496.5:c.1681C>T | ENSP00000418742.1:n.1681C>T | |
| ENST00000496200.5:c.1459C>T | ENSP00000420803.1:p.Arg487Trp | |
| ENST00000626419.2:c.1531C>T | ENSP00000486056.1:p.Arg511Trp | |
| NM_000883.3:c.1789C>T | NP_000874.2:p.Arg597Trp | |
| NM_001102605.1:c.1759C>T | NP_001096075.1:p.Arg587Trp | |
| NM_001142573.1:c.1534C>T | NP_001136045.1:p.Arg512Trp | |
| NM_001142574.1:c.1519C>T | NP_001136046.1:p.Arg507Trp | |
| NM_001142575.1:c.1459C>T | NP_001136047.1:p.Arg487Trp | |
| NM_001142576.1:c.1690C>T | NP_001136048.1:p.Arg564Trp | |
| NM_001304521.1:c.1582C>T | NP_001291450.1:p.Arg528Trp | |
| NM_183243.2:c.1681C>T | NP_899066.1:p.Arg561Trp | |
| XM_005250314.1:c.1558C>T | XP_005250371.1:p.Arg520Trp | |
| XM_006715967.1:c.1806C>T | XP_006716030.1:p.Ser602= | |
| XM_006715968.1:c.1776C>T | XP_006716031.1:p.Ser592= | |
| XM_006715969.1:c.1698C>T | XP_006716032.1:p.Ser566= | |
| XM_006715970.2:c.1599C>T | XP_006716033.1:p.Ser533= | |
| XM_006715971.1:c.1575C>T | XP_006716034.1:p.Ser525= | |
| XM_011516156.1:c.1188C>T | XP_011514458.1:p.Ser396= | |
| XM_011516157.1:c.1171C>T | XP_011514459.1:p.Arg391Trp | |
| XM_017012172.1:c.1558C>T | XP_016867661.1:p.Arg520Trp | |
| XM_024446755.1:c.1776C>T | XP_024302523.1:p.Ser592= | |
| XM_024446756.1:c.1698C>T | XP_024302524.1:p.Ser566= | |
| XM_024446757.1:c.1599C>T | XP_024302525.1:p.Ser533= | |
| XM_024446758.1:c.1575C>T | XP_024302526.1:p.Ser525= | |
| NM_000883.4:c.1789C>T MANE Select | NP_000874.2:p.Arg597Trp | |
| NM_001102605.2:c.1759C>T | NP_001096075.1:p.Arg587Trp | |
| NM_001142573.2:c.1534C>T | NP_001136045.1:p.Arg512Trp | |
| NM_001142574.2:c.1519C>T | NP_001136046.1:p.Arg507Trp | |
| NM_001142575.2:c.1459C>T | NP_001136047.1:p.Arg487Trp | |
| NM_001142576.2:c.1690C>T | NP_001136048.1:p.Arg564Trp | |
| NM_001304521.2:c.1582C>T | NP_001291450.1:p.Arg528Trp | |
| NM_183243.3:c.1681C>T | NP_899066.1:p.Arg561Trp |