Linked Data
dbSNP Id:
rs148674035
ExAC:
17:27861258 T / C
gnomAD v2:
17-27861258-T-C
gnomAD v3:
17-29534240-T-C
gnomAD v4:
17-29534240-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.29534240T>C , CM000679.2:g.29534240T>C | GRCh38 |
| NC_000017.10:g.27861258T>C , CM000679.1:g.27861258T>C | GRCh37 |
| NC_000017.9:g.24885384T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261716.8:c.2484T>C MANE Select | ENSP00000261716.3:p.Asp828= | |
| ENST00000261716.7:c.2484T>C | ENSP00000261716.3:p.Asp828= | |
| ENST00000536202.1:c.2040T>C | ENSP00000438819.1:p.Asp680= | |
| NM_020791.2:c.2484T>C | NP_065842.1:p.Asp828= | |
| NM_025142.1:c.2040T>C | NP_079418.1:p.Asp680= | |
| XM_011525060.1:c.2484T>C | XP_011523362.1:p.Asp828= | |
| XM_011525060.2:c.2484T>C | XP_011523362.1:p.Asp828= | |
| NM_020791.4:c.2484T>C MANE Select | NP_065842.1:p.Asp828= |