Linked Data
ClinVar Variation Id:
14837
dbSNP Id:
rs121912553
ExAC:
7:128040882 G / A
gnomAD v2:
7-128040882-G-A
gnomAD v3:
7-128400828-G-A
gnomAD v4:
7-128400828-G-A
PubMed:
PMID:16384941
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128400828G>A , CM000669.2:g.128400828G>A | GRCh38 |
| NC_000007.13:g.128040882G>A , CM000669.1:g.128040882G>A | GRCh37 |
| NC_000007.12:g.127828118G>A | NCBI36 |
| NG_009194.1:g.14155C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348127.11:c.460C>T | ENSP00000265385.8:p.Arg154Trp | |
| ENST00000484496.6:n.424C>T | ||
| ENST00000338791.11:c.568C>T MANE Select | ENSP00000345096.6:p.Arg190Trp | |
| ENST00000648462.1:c.211+4C>T | ||
| ENST00000338791.10:c.568C>T | ENSP00000345096.6:p.Arg190Trp | |
| ENST00000348127.10:c.460C>T | ENSP00000265385.8:p.Arg154Trp | |
| ENST00000354269.9:c.538C>T | ENSP00000346219.5:p.Arg180Trp | |
| ENST00000419067.6:c.469C>T | ENSP00000399400.2:p.Arg157Trp | |
| ENST00000469328.5:c.314C>T | ||
| ENST00000470772.5:c.313C>T | ENSP00000417296.1:p.Arg105Trp | |
| ENST00000480861.5:c.309+4C>T | ENSP00000420185.1:n.309+4C>T | |
| ENST00000484496.5:c.424C>T | ENSP00000418742.1:p.Arg142Trp | |
| ENST00000489263.1:c.297+187C>T | ENSP00000418592.1:n.297+187C>T | |
| ENST00000491376.5:n.737C>T | ||
| ENST00000496200.5:c.249+187C>T | ENSP00000420803.1:n.249+187C>T | |
| ENST00000496487.5:n.388C>T | ||
| ENST00000497868.5:c.361C>T | ENSP00000419609.1:p.Arg121Trp | |
| ENST00000626419.2:c.313C>T | ENSP00000486056.1:p.Arg105Trp | |
| NM_000883.3:c.568C>T | NP_000874.2:p.Arg190Trp | |
| NM_001102605.1:c.538C>T | NP_001096075.1:p.Arg180Trp | |
| NM_001142573.1:c.313C>T | NP_001136045.1:p.Arg105Trp | |
| NM_001142574.1:c.309+4C>T | NP_001136046.1:n.309+4C>T | |
| NM_001142575.1:c.249+187C>T | NP_001136047.1:n.249+187C>T | |
| NM_001142576.1:c.469C>T | NP_001136048.1:p.Arg157Trp | |
| NM_001304521.1:c.361C>T | NP_001291450.1:p.Arg121Trp | |
| NM_183243.2:c.460C>T | NP_899066.1:p.Arg154Trp | |
| XM_005250314.1:c.337C>T | XP_005250371.1:p.Arg113Trp | |
| XM_006715967.1:c.568C>T | XP_006716030.1:p.Arg190Trp | |
| XM_006715968.1:c.538C>T | XP_006716031.1:p.Arg180Trp | |
| XM_006715969.1:c.460C>T | XP_006716032.1:p.Arg154Trp | |
| XM_006715970.2:c.361C>T | XP_006716033.1:p.Arg121Trp | |
| XM_006715971.1:c.337C>T | XP_006716034.1:p.Arg113Trp | |
| XM_017012172.1:c.337C>T | XP_016867661.1:p.Arg113Trp | |
| XM_017012173.1:c.538C>T | XP_016867662.1:p.Arg180Trp | |
| XM_024446755.1:c.538C>T | XP_024302523.1:p.Arg180Trp | |
| XM_024446756.1:c.460C>T | XP_024302524.1:p.Arg154Trp | |
| XM_024446757.1:c.361C>T | XP_024302525.1:p.Arg121Trp | |
| XM_024446758.1:c.337C>T | XP_024302526.1:p.Arg113Trp | |
| NM_000883.4:c.568C>T MANE Select | NP_000874.2:p.Arg190Trp | |
| NM_001102605.2:c.538C>T | NP_001096075.1:p.Arg180Trp | |
| NM_001142573.2:c.313C>T | NP_001136045.1:p.Arg105Trp | |
| NM_001142574.2:c.309+4C>T | NP_001136046.1:n.309+4C>T | |
| NM_001142575.2:c.249+187C>T | NP_001136047.1:n.249+187C>T | |
| NM_001142576.2:c.469C>T | NP_001136048.1:p.Arg157Trp | |
| NM_001304521.2:c.361C>T | NP_001291450.1:p.Arg121Trp | |
| NM_183243.3:c.460C>T | NP_899066.1:p.Arg154Trp |