Linked Data
dbSNP Id:
rs369191172
ExAC:
19:7598677 A / G
gnomAD v2:
19-7598677-A-G
gnomAD v4:
19-7533791-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533791A>G , CM000681.2:g.7533791A>G | GRCh38 |
| NC_000019.9:g.7598677A>G , CM000681.1:g.7598677A>G | GRCh37 |
| NC_000019.8:g.7504677A>G | NCBI36 |
| NG_013374.1:g.4640A>G | |
| NG_015806.1:g.16182A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1739A>G MANE Select | ENSP00000264079.5:p.Asn580Ser | |
| ENST00000264079.10:c.1739A>G | ENSP00000264079.5:p.Asn580Ser | |
| ENST00000394321.9:n.2054A>G | ||
| ENST00000599334.1:c.467A>G | ||
| ENST00000601870.1:c.92A>G | ||
| ENST00000602227.1:n.293A>G | ||
| NM_020533.2:c.1739A>G | NP_065394.1:p.Asn580Ser | |
| NM_020533.3:c.1739A>G MANE Select | NP_065394.1:p.Asn580Ser |