Linked Data
dbSNP Id:
rs373512612
ExAC:
1:55505694 G / C
gnomAD v2:
1-55505694-G-C
gnomAD v4:
1-55040021-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55040021G>C , CM000663.2:g.55040021G>C | GRCh38 |
| NC_000001.10:g.55505694G>C , CM000663.1:g.55505694G>C | GRCh37 |
| NC_000001.9:g.55278282G>C | NCBI36 |
| NG_009061.1:g.5475G>C , LRG_275:g.5475G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.184G>C | ENSP00000501161.2:p.Ala62Pro | |
| ENST00000710286.1:c.541G>C | ENSP00000518176.1:p.Ala181Pro | |
| ENST00000673726.1:c.184G>C | ENSP00000501004.1:p.Ala62Pro | |
| ENST00000302118.5:c.184G>C MANE Select | ENSP00000303208.5:p.Ala62Pro | |
| NM_174936.3:c.184G>C , LRG_275t1:c.184G>C | NP_777596.2:p.Ala62Pro | |
| NM_174936.4:c.184G>C MANE Select | NP_777596.2:p.Ala62Pro |