Linked Data
ClinVar Variation Id:
12943
ClinVar RCV Id:
RCV000013806
dbSNP Id:
rs104893666
gnomAD v4:
2-72888497-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72888497C>T , CM000664.2:g.72888497C>T | GRCh38 |
| NC_000002.11:g.73115626C>T , CM000664.1:g.73115626C>T | GRCh37 |
| NC_000002.10:g.72969134C>T | NCBI36 |
| NG_008234.1:g.6115C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000234454.6:c.488C>T MANE Select | ENSP00000234454.5:p.Pro163Leu | |
| ENST00000234454.5:c.488C>T | ENSP00000234454.5:p.Pro163Leu | |
| ENST00000498749.1:n.433C>T | ||
| NM_003124.4:c.488C>T | NP_003115.1:p.Pro163Leu | |
| NM_003124.5:c.488C>T MANE Select | NP_003115.1:p.Pro163Leu |