Linked Data
ClinVar Variation Id:
65737
ClinVar RCV Id:
RCV000055967
dbSNP Id:
rs137852727
PubMed:
PMID:20945554
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137834397C>T , CM000671.2:g.137834397C>T | GRCh38 |
| NC_000009.11:g.140728849C>T , CM000671.1:g.140728849C>T | GRCh37 |
| NC_000009.10:g.139848670C>T | NCBI36 |
| NG_011776.1:g.220406C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.3589C>T MANE Select | ENSP00000417980.1:p.Arg1197Trp | |
| ENST00000637161.1:c.3496C>T | ENSP00000490328.1:p.Arg1166Trp | |
| ENST00000637261.1:c.4163C>T | ENSP00000490815.1:n.4163C>T | |
| ENST00000637748.1:n.570C>T | ||
| ENST00000637891.1:c.1663C>T | ENSP00000490907.1:n.1663C>T | |
| ENST00000460843.5:c.3589C>T | ENSP00000417980.1:p.Arg1197Trp | |
| ENST00000462942.3:c.2398-12163C>T | ENSP00000436107.1:n.2398-12163C>T | |
| ENST00000472849.1:n.361C>T | ||
| ENST00000475564.5:n.1313C>T | ||
| ENST00000475704.2:n.319C>T | ||
| ENST00000494249.5:n.942C>T | ||
| NM_024757.4:c.3589C>T | NP_079033.4:p.Arg1197Trp | |
| XM_005266105.3:c.3580C>T | XP_005266162.1:p.Arg1194Trp | |
| XM_005266110.1:c.3496C>T | XP_005266167.1:p.Arg1166Trp | |
| XM_006717288.2:c.3571C>T | XP_006717351.1:p.Arg1191Trp | |
| XM_011519021.1:c.3598C>T | XP_011517323.1:p.Arg1200Trp | |
| XM_011519022.1:c.3595C>T | XP_011517324.1:p.Arg1199Trp | |
| XM_011519023.1:c.3577C>T | XP_011517325.1:p.Arg1193Trp | |
| XM_011519024.1:c.3520C>T | XP_011517326.1:p.Arg1174Trp | |
| XM_011519025.1:c.3496C>T | XP_011517327.1:p.Arg1166Trp | |
| XM_011519026.1:c.3454C>T | XP_011517328.1:p.Arg1152Trp | |
| XM_011519029.1:c.2020C>T | XP_011517331.1:p.Arg674Trp | |
| XM_011519030.1:c.1372C>T | XP_011517332.1:p.Arg458Trp | |
| XM_011519031.1:c.1159C>T | XP_011517333.1:p.Arg387Trp | |
| XM_011519032.1:c.1159C>T | XP_011517334.1:p.Arg387Trp | |
| XM_011519033.1:c.3433C>T | XP_011517335.1:p.Arg1145Trp | |
| NM_001354263.1:c.3568C>T | NP_001341192.1:p.Arg1190Trp | |
| XM_005266105.5:c.3580C>T | XP_005266162.1:p.Arg1194Trp | |
| XM_011519021.3:c.3598C>T | XP_011517323.1:p.Arg1200Trp | |
| XM_011519022.3:c.3595C>T | XP_011517324.1:p.Arg1199Trp | |
| XM_011519023.3:c.3577C>T | XP_011517325.1:p.Arg1193Trp | |
| XM_011519029.3:c.2020C>T | XP_011517331.1:p.Arg674Trp | |
| XM_011519030.3:c.1372C>T | XP_011517332.1:p.Arg458Trp | |
| XM_017015134.1:c.3574C>T | XP_016870623.1:p.Arg1192Trp | |
| XM_017015136.2:c.3490C>T | XP_016870625.1:p.Arg1164Trp | |
| XM_017015137.1:c.3475C>T | XP_016870626.1:p.Arg1159Trp | |
| XM_017015138.1:c.3475C>T | XP_016870627.1:p.Arg1159Trp | |
| XM_024447674.1:c.3418C>T | XP_024303442.1:p.Arg1140Trp | |
| XM_024447675.1:c.3352C>T | XP_024303443.1:p.Arg1118Trp | |
| XM_024447676.1:c.2713C>T | XP_024303444.1:p.Arg905Trp | |
| XM_024447677.1:c.2713C>T | XP_024303445.1:p.Arg905Trp | |
| XM_024447680.1:c.3331C>T | XP_024303448.1:p.Arg1111Trp | |
| NM_024757.5:c.3589C>T MANE Select | NP_079033.4:p.Arg1197Trp | |
| NM_001354263.2:c.3568C>T | NP_001341192.1:p.Arg1190Trp |