Linked Data
dbSNP Id:
rs776579765
ExAC:
10:96702098 G / C
gnomAD v2:
10-96702098-G-C
gnomAD v4:
10-94942341-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942341G>C , CM000672.2:g.94942341G>C | GRCh38 |
| NC_000010.10:g.96702098G>C , CM000672.1:g.96702098G>C | GRCh37 |
| NC_000010.9:g.96692088G>C | NCBI36 |
| NG_008385.1:g.8684G>C | |
| NG_008385.2:g.9184G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.481G>C MANE Select | ENSP00000260682.6:p.Ala161Pro | |
| ENST00000643112.1:c.481G>C | ENSP00000496202.1:p.Ala161Pro | |
| ENST00000645207.1:n.634G>C | ||
| ENST00000260682.6:c.481G>C | ENSP00000260682.6:p.Ala161Pro | |
| ENST00000461906.1:n.506G>C | ||
| ENST00000473496.1:n.252G>C | ||
| NM_000771.3:c.481G>C | NP_000762.2:p.Ala161Pro | |
| NM_000771.4:c.481G>C MANE Select | NP_000762.2:p.Ala161Pro |