Linked Data
ClinVar Variation Id:
371101
ClinVar RCV Id:
RCV000411603
dbSNP Id:
rs1057517008
gnomAD v3:
17-42901037-A-C
gnomAD v4:
17-42901037-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42901037A>C , CM000679.2:g.42901037A>C | GRCh38 |
| NC_000017.10:g.41053054A>C , CM000679.1:g.41053054A>C | GRCh37 |
| NC_000017.9:g.38306580A>C | NCBI36 |
| NG_011808.1:g.5240A>C , LRG_147:g.5240A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253801.7:c.161A>C MANE Select | ENSP00000253801.1:p.Gln54Pro | |
| ENST00000253801.6:c.161A>C | ENSP00000253801.1:p.Gln54Pro | |
| ENST00000585489.1:c.161A>C | ENSP00000466202.1:p.Gln54Pro | |
| ENST00000588481.1:n.226A>C | ||
| ENST00000592383.5:c.161A>C | ENSP00000465958.1:p.Gln54Pro | |
| NM_000151.3:c.161A>C | NP_000142.2:p.Gln54Pro | |
| NM_001270397.1:c.161A>C | NP_001257326.1:p.Gln54Pro | |
| NM_000151.4:c.161A>C MANE Select | NP_000142.2:p.Gln54Pro | |
| NM_001270397.2:c.161A>C | NP_001257326.1:p.Gln54Pro |