Linked Data
dbSNP Id:
rs751298168
ExAC:
19:7598537 A / C
gnomAD v2:
19-7598537-A-C
gnomAD v3:
19-7533651-A-C
gnomAD v4:
19-7533651-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533651A>C , CM000681.2:g.7533651A>C | GRCh38 |
| NC_000019.9:g.7598537A>C , CM000681.1:g.7598537A>C | GRCh37 |
| NC_000019.8:g.7504537A>C | NCBI36 |
| NG_013374.1:g.4500A>C | |
| NG_015806.1:g.16042A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.1704A>C MANE Select | ENSP00000264079.5:p.Gly568= | |
| ENST00000264079.10:c.1704A>C | ENSP00000264079.5:p.Gly568= | |
| ENST00000394321.9:n.2019A>C | ||
| ENST00000599334.1:c.432A>C | ||
| ENST00000601870.1:c.57A>C | ||
| ENST00000602227.1:n.258A>C | ||
| NM_020533.2:c.1704A>C | NP_065394.1:p.Gly568= | |
| NM_020533.3:c.1704A>C MANE Select | NP_065394.1:p.Gly568= |