Linked Data
ClinVar Variation Id:
2506073
dbSNP Id:
rs773309037
ExAC:
3:8787497 G / C
gnomAD v2:
3-8787497-G-C
gnomAD v3:
3-8745811-G-C
gnomAD v4:
3-8745811-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745811G>C , CM000665.2:g.8745811G>C | GRCh38 |
| NC_000003.11:g.8787497G>C , CM000665.1:g.8787497G>C | GRCh37 |
| NC_000003.10:g.8762497G>C | NCBI36 |
| NG_008797.2:g.17002G>C , LRG_329:g.17002G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.400G>C MANE Select | ENSP00000341940.2:p.Ala134Pro | |
| ENST00000343849.2:c.400G>C | ENSP00000341940.2:p.Ala134Pro | |
| ENST00000397368.2:c.400G>C | ENSP00000380525.2:p.Ala134Pro | |
| ENST00000472766.1:n.155+11821G>C | ||
| NM_001234.4:c.400G>C | NP_001225.1:p.Ala134Pro | |
| NM_033337.2:c.400G>C , LRG_329t1:c.400G>C | NP_203123.1:p.Ala134Pro | |
| NM_001234.5:c.400G>C | NP_001225.1:p.Ala134Pro | |
| NM_033337.3:c.400G>C MANE Select | NP_203123.1:p.Ala134Pro |