Linked Data
ClinVar Variation Id:
769055
ClinVar RCV Id:
RCV000948009
dbSNP Id:
rs41391053
ExAC:
19:56467052 C / T
gnomAD v2:
19-56467052-C-T
gnomAD v3:
19-55955686-C-T
gnomAD v4:
19-55955686-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55955686C>T , CM000681.2:g.55955686C>T | GRCh38 |
| NC_000019.9:g.56467052C>T , CM000681.1:g.56467052C>T | GRCh37 |
| NC_000019.8:g.61158864C>T | NCBI36 |
| NG_051553.1:g.12855C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291971.7:c.1628C>T MANE Select | ENSP00000291971.3:p.Ala543Val | |
| ENST00000590542.1:c.1628C>T | ENSP00000468121.1:p.Ala543Val | |
| NM_001317000.1:c.1628C>T | NP_001303929.1:p.Ala543Val | |
| NM_176811.2:c.1628C>T MANE Select | NP_789781.2:p.Ala543Val |