Linked Data
ClinVar Variation Id:
1011229
dbSNP Id:
rs748341188
ExAC:
1:1956383 C / T
gnomAD v2:
1-1956383-C-T
gnomAD v3:
1-2024944-C-T
gnomAD v4:
1-2024944-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.2024944C>T , CM000663.2:g.2024944C>T | GRCh38 |
| NC_000001.10:g.1956383C>T , CM000663.1:g.1956383C>T | GRCh37 |
| NC_000001.9:g.1946243C>T | NCBI36 |
| NG_008168.1:g.10616C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378585.7:c.71C>T MANE Select | ENSP00000367848.4:p.Ala24Val | |
| ENST00000638411.1:c.71C>T | ENSP00000491632.1:p.Ala24Val | |
| ENST00000638604.1:n.135C>T | ||
| ENST00000638771.1:c.71C>T | ENSP00000492435.1:p.Ala24Val | |
| ENST00000639045.1:c.*57C>T | ENSP00000491997.1:n.*57C>T | |
| ENST00000639777.1:n.675C>T | ||
| ENST00000639935.1:n.108C>T | ||
| ENST00000640030.1:c.11C>T | ENSP00000491411.1:p.Ala4Val | |
| ENST00000640067.1:c.71C>T | ENSP00000491844.1:p.Ala24Val | |
| ENST00000640423.1:n.80C>T | ||
| ENST00000640949.1:c.71C>T | ENSP00000492500.1:p.Ala24Val | |
| ENST00000378585.5:c.71C>T | ENSP00000367848.4:p.Ala24Val | |
| NM_000815.4:c.71C>T | NP_000806.2:p.Ala24Val | |
| XM_011541194.1:c.110C>T | XP_011539496.1:p.Ala37Val | |
| XM_011541194.3:c.110C>T | XP_011539496.1:p.Ala37Val | |
| XM_017000936.1:c.776C>T | XP_016856425.1:p.Ala259Val | |
| NM_000815.5:c.71C>T MANE Select | NP_000806.2:p.Ala24Val |