Linked Data
dbSNP Id:
rs781404666
ExAC:
19:7591860 G / C
gnomAD v2:
19-7591860-G-C
gnomAD v4:
19-7526974-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7526974G>C , CM000681.2:g.7526974G>C | GRCh38 |
| NC_000019.9:g.7591860G>C , CM000681.1:g.7591860G>C | GRCh37 |
| NC_000019.8:g.7497860G>C | NCBI36 |
| NG_015806.1:g.9365G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.571+48G>C MANE Select | ENSP00000264079.5:n.571+48G>C | |
| ENST00000264079.10:c.571+48G>C | ENSP00000264079.5:n.571+48G>C | |
| ENST00000394321.9:n.651+48G>C | ||
| ENST00000596008.1:n.581G>C | ||
| ENST00000598406.1:n.392+48G>C | ||
| ENST00000601003.1:c.571+48G>C | ENSP00000469074.1:n.571+48G>C | |
| NM_020533.2:c.571+48G>C | NP_065394.1:n.571+48G>C | |
| NM_020533.3:c.571+48G>C MANE Select | NP_065394.1:n.571+48G>C |