Linked Data
dbSNP Id:
rs750958405
ExAC:
19:7592608 G / C
gnomAD v2:
19-7592608-G-C
gnomAD v3:
19-7527722-G-C
gnomAD v4:
19-7527722-G-C
MyVariant Identifiers:
chr19:g.7592608G>C (hg19)
chr19:g.7592608_7592615delinsCGCCCCCC (hg19)
chr19:g.7527722G>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527722G>C , CM000681.2:g.7527722G>C | GRCh38 |
| NC_000019.9:g.7592608G>C , CM000681.1:g.7592608G>C | GRCh37 |
| NC_000019.8:g.7498608G>C | NCBI36 |
| NG_015806.1:g.10113G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.680+94G>C MANE Select | ENSP00000264079.5:n.680+94G>C | |
| ENST00000264079.10:c.680+94G>C | ENSP00000264079.5:n.680+94G>C | |
| ENST00000394321.9:n.854G>C | ||
| ENST00000598406.1:n.595G>C | ||
| ENST00000601003.1:c.572-142G>C | ENSP00000469074.1:n.572-142G>C | |
| NM_020533.2:c.680+94G>C | NP_065394.1:n.680+94G>C | |
| NM_020533.3:c.680+94G>C MANE Select | NP_065394.1:n.680+94G>C |