Linked Data
ClinVar Variation Id:
283420
dbSNP Id:
rs138292762
ExAC:
9:140611180 C / T
gnomAD v2:
9-140611180-C-T
gnomAD v3:
9-137716728-C-T
gnomAD v4:
9-137716728-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137716728C>T , CM000671.2:g.137716728C>T | GRCh38 |
| NC_000009.11:g.140611180C>T , CM000671.1:g.140611180C>T | GRCh37 |
| NC_000009.10:g.139731001C>T | NCBI36 |
| NG_011776.1:g.102737C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460843.6:c.188C>T MANE Select | ENSP00000417980.1:p.Ala63Val | |
| ENST00000629335.2:c.188C>T | ENSP00000490056.1:p.Ala63Val | |
| ENST00000636027.1:c.95C>T | ENSP00000489961.1:p.Ala32Val | |
| ENST00000637161.1:c.95C>T | ENSP00000490328.1:p.Ala32Val | |
| ENST00000637261.1:c.164C>T | ENSP00000490815.1:p.Ala55Val | |
| ENST00000637977.1:c.133C>T | ||
| ENST00000371394.6:c.124C>T | ENSP00000485945.1:p.Pro42Ser | |
| ENST00000460486.3:c.299C>T | ENSP00000486969.1:p.Ala100Val | |
| ENST00000460843.5:c.188C>T | ENSP00000417980.1:p.Ala63Val | |
| ENST00000462484.5:c.188C>T | ENSP00000417328.1:p.Ala63Val | |
| ENST00000492232.5:c.95C>T | ENSP00000486580.1:p.Ala32Val | |
| ENST00000626066.2:c.112C>T | ||
| ENST00000626216.2:c.95C>T | ENSP00000485878.1:p.Ala32Val | |
| ENST00000629417.1:c.95C>T | ENSP00000486857.1:p.Ala32Val | |
| ENST00000630754.2:c.95C>T | ENSP00000485933.1:p.Ala32Val | |
| NM_001145527.1:c.188C>T | NP_001138999.1:p.Ala63Val | |
| NM_024757.4:c.188C>T | NP_079033.4:p.Ala63Val | |
| XM_005266105.3:c.179C>T | XP_005266162.1:p.Ala60Val | |
| XM_005266110.1:c.95C>T | XP_005266167.1:p.Ala32Val | |
| XM_006717288.2:c.170C>T | XP_006717351.1:p.Ala57Val | |
| XM_011519021.1:c.197C>T | XP_011517323.1:p.Ala66Val | |
| XM_011519022.1:c.194C>T | XP_011517324.1:p.Ala65Val | |
| XM_011519023.1:c.197C>T | XP_011517325.1:p.Ala66Val | |
| XM_011519024.1:c.197C>T | XP_011517326.1:p.Ala66Val | |
| XM_011519025.1:c.95C>T | XP_011517327.1:p.Ala32Val | |
| XM_011519026.1:c.197C>T | XP_011517328.1:p.Ala66Val | |
| XM_011519027.1:c.197C>T | XP_011517329.1:p.Ala66Val | |
| XM_011519028.1:c.197C>T | XP_011517330.1:p.Ala66Val | |
| XM_011519033.1:c.197C>T | XP_011517335.1:p.Ala66Val | |
| NM_001354259.1:c.95C>T | NP_001341188.1:p.Ala32Val | |
| NM_001354263.1:c.188C>T | NP_001341192.1:p.Ala63Val | |
| NM_001354611.1:c.188C>T | NP_001341540.1:p.Ala63Val | |
| NM_001354612.1:c.95C>T | NP_001341541.1:p.Ala32Val | |
| XM_005266105.5:c.179C>T | XP_005266162.1:p.Ala60Val | |
| XM_011519021.3:c.197C>T | XP_011517323.1:p.Ala66Val | |
| XM_011519022.3:c.194C>T | XP_011517324.1:p.Ala65Val | |
| XM_011519023.3:c.197C>T | XP_011517325.1:p.Ala66Val | |
| XM_017015134.1:c.194C>T | XP_016870623.1:p.Ala65Val | |
| XM_017015136.2:c.188C>T | XP_016870625.1:p.Ala63Val | |
| XM_017015137.1:c.95C>T | XP_016870626.1:p.Ala32Val | |
| XM_017015138.1:c.95C>T | XP_016870627.1:p.Ala32Val | |
| XM_024447674.1:c.95C>T | XP_024303442.1:p.Ala32Val | |
| XM_024447675.1:c.95C>T | XP_024303443.1:p.Ala32Val | |
| XM_024447678.1:c.95C>T | XP_024303446.1:p.Ala32Val | |
| XM_024447679.1:c.95C>T | XP_024303447.1:p.Ala32Val | |
| XM_024447680.1:c.95C>T | XP_024303448.1:p.Ala32Val | |
| NM_024757.5:c.188C>T MANE Select | NP_079033.4:p.Ala63Val | |
| NM_001145527.2:c.188C>T | NP_001138999.1:p.Ala63Val | |
| NM_001354259.2:c.95C>T | NP_001341188.1:p.Ala32Val | |
| NM_001354263.2:c.188C>T | NP_001341192.1:p.Ala63Val | |
| NM_001354611.2:c.188C>T | NP_001341540.1:p.Ala63Val | |
| NM_001354612.2:c.95C>T | NP_001341541.1:p.Ala32Val |