Linked Data
ClinVar Variation Id:
96159
dbSNP Id:
rs398124407
ExAC:
9:140728815 C / T
gnomAD v2:
9-140728815-C-T
gnomAD v3:
9-137834363-C-T
gnomAD v4:
9-137834363-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137834363C>T , CM000671.2:g.137834363C>T | GRCh38 |
| NC_000009.11:g.140728815C>T , CM000671.1:g.140728815C>T | GRCh37 |
| NC_000009.10:g.139848636C>T | NCBI36 |
| NG_011776.1:g.220372C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.3555C>T MANE Select | ENSP00000417980.1:p.Tyr1185= | |
| ENST00000637161.1:c.3462C>T | ENSP00000490328.1:p.Tyr1154= | |
| ENST00000637261.1:c.4129C>T | ENSP00000490815.1:n.4129C>T | |
| ENST00000637748.1:n.536C>T | ||
| ENST00000637891.1:c.1629C>T | ENSP00000490907.1:n.1629C>T | |
| ENST00000460843.5:c.3555C>T | ENSP00000417980.1:p.Tyr1185= | |
| ENST00000462942.3:c.2398-12197C>T | ENSP00000436107.1:n.2398-12197C>T | |
| ENST00000472849.1:n.327C>T | ||
| ENST00000475564.5:n.1279C>T | ||
| ENST00000475704.2:n.285C>T | ||
| ENST00000494249.5:n.908C>T | ||
| NM_024757.4:c.3555C>T | NP_079033.4:p.Tyr1185= | |
| XM_005266105.3:c.3546C>T | XP_005266162.1:p.Tyr1182= | |
| XM_005266110.1:c.3462C>T | XP_005266167.1:p.Tyr1154= | |
| XM_006717288.2:c.3537C>T | XP_006717351.1:p.Tyr1179= | |
| XM_011519021.1:c.3564C>T | XP_011517323.1:p.Tyr1188= | |
| XM_011519022.1:c.3561C>T | XP_011517324.1:p.Tyr1187= | |
| XM_011519023.1:c.3543C>T | XP_011517325.1:p.Tyr1181= | |
| XM_011519024.1:c.3486C>T | XP_011517326.1:p.Tyr1162= | |
| XM_011519025.1:c.3462C>T | XP_011517327.1:p.Tyr1154= | |
| XM_011519026.1:c.3420C>T | XP_011517328.1:p.Tyr1140= | |
| XM_011519029.1:c.1986C>T | XP_011517331.1:p.Tyr662= | |
| XM_011519030.1:c.1338C>T | XP_011517332.1:p.Tyr446= | |
| XM_011519031.1:c.1125C>T | XP_011517333.1:p.Tyr375= | |
| XM_011519032.1:c.1125C>T | XP_011517334.1:p.Tyr375= | |
| XM_011519033.1:c.3399C>T | XP_011517335.1:p.Tyr1133= | |
| NM_001354263.1:c.3534C>T | NP_001341192.1:p.Tyr1178= | |
| XM_005266105.5:c.3546C>T | XP_005266162.1:p.Tyr1182= | |
| XM_011519021.3:c.3564C>T | XP_011517323.1:p.Tyr1188= | |
| XM_011519022.3:c.3561C>T | XP_011517324.1:p.Tyr1187= | |
| XM_011519023.3:c.3543C>T | XP_011517325.1:p.Tyr1181= | |
| XM_011519029.3:c.1986C>T | XP_011517331.1:p.Tyr662= | |
| XM_011519030.3:c.1338C>T | XP_011517332.1:p.Tyr446= | |
| XM_017015134.1:c.3540C>T | XP_016870623.1:p.Tyr1180= | |
| XM_017015136.2:c.3456C>T | XP_016870625.1:p.Tyr1152= | |
| XM_017015137.1:c.3441C>T | XP_016870626.1:p.Tyr1147= | |
| XM_017015138.1:c.3441C>T | XP_016870627.1:p.Tyr1147= | |
| XM_024447674.1:c.3384C>T | XP_024303442.1:p.Tyr1128= | |
| XM_024447675.1:c.3318C>T | XP_024303443.1:p.Tyr1106= | |
| XM_024447676.1:c.2679C>T | XP_024303444.1:p.Tyr893= | |
| XM_024447677.1:c.2679C>T | XP_024303445.1:p.Tyr893= | |
| XM_024447680.1:c.3297C>T | XP_024303448.1:p.Tyr1099= | |
| NM_024757.5:c.3555C>T MANE Select | NP_079033.4:p.Tyr1185= | |
| NM_001354263.2:c.3534C>T | NP_001341192.1:p.Tyr1178= |