Linked Data
ClinVar Variation Id:
2740113
ClinVar RCV Id:
RCV003509164
dbSNP Id:
rs782542091
ExAC:
1:147380204 C / T
gnomAD v2:
1-147380204-C-T
gnomAD v3:
1-147908077-C-T
gnomAD v4:
1-147908077-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147908077C>T , CM000663.2:g.147908077C>T | GRCh38 |
| NC_000001.10:g.147380204C>T , CM000663.1:g.147380204C>T | GRCh37 |
| NC_000001.9:g.145846828C>T | NCBI36 |
| NG_016242.1:g.10259C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369235.2:c.122C>T MANE Select | ENSP00000358238.1:p.Ala41Val | |
| ENST00000369235.1:c.122C>T | ENSP00000358238.1:p.Ala41Val | |
| NM_005267.4:c.122C>T | NP_005258.2:p.Ala41Val | |
| XM_011509416.1:c.122C>T | XP_011507718.1:p.Ala41Val | |
| XM_011509417.1:c.122C>T | XP_011507719.1:p.Ala41Val | |
| XM_011509417.2:c.122C>T | XP_011507719.1:p.Ala41Val | |
| XR_002956281.1:n.1037C>T | ||
| NM_005267.5:c.122C>T MANE Select | NP_005258.2:p.Ala41Val |