Linked Data
ClinVar Variation Id:
2446454
ClinVar RCV Id:
RCV003159288
dbSNP Id:
rs1220169908
gnomAD v2:
19-1401316-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1401317C>G , CM000681.2:g.1401317C>G | GRCh38 |
| NC_000019.9:g.1401316C>G , CM000681.1:g.1401316C>G | GRCh37 |
| NC_000019.8:g.1352316C>G | NCBI36 |
| NG_009785.1:g.5237G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.160G>C MANE Select | ENSP00000252288.1:p.Ala54Pro | |
| ENST00000447102.8:c.160G>C | ENSP00000403536.2:p.Ala54Pro | |
| ENST00000640762.1:c.112+48G>C | ENSP00000492031.1:n.112+48G>C | |
| ENST00000252288.6:c.160G>C | ENSP00000252288.1:p.Ala54Pro | |
| ENST00000447102.7:c.160G>C | ENSP00000403536.2:p.Ala54Pro | |
| NM_000156.5:c.160G>C | NP_000147.1:p.Ala54Pro | |
| NM_138924.2:c.160G>C | NP_620279.1:p.Ala54Pro | |
| NM_000156.6:c.160G>C MANE Select | NP_000147.1:p.Ala54Pro | |
| NM_138924.3:c.160G>C | NP_620279.1:p.Ala54Pro |