Linked Data
dbSNP Id:
rs765799318
ExAC:
19:7592491 G / T
gnomAD v2:
19-7592491-G-T
gnomAD v4:
19-7527605-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527605G>T , CM000681.2:g.7527605G>T | GRCh38 |
| NC_000019.9:g.7592491G>T , CM000681.1:g.7592491G>T | GRCh37 |
| NC_000019.8:g.7498491G>T | NCBI36 |
| NG_015806.1:g.9996G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.657G>T MANE Select | ENSP00000264079.5:p.Lys219Asn | |
| ENST00000264079.10:c.657G>T | ENSP00000264079.5:p.Lys219Asn | |
| ENST00000394321.9:n.737G>T | ||
| ENST00000598406.1:n.478G>T | ||
| ENST00000601003.1:c.572-259G>T | ENSP00000469074.1:n.572-259G>T | |
| NM_020533.2:c.657G>T | NP_065394.1:p.Lys219Asn | |
| NM_020533.3:c.657G>T MANE Select | NP_065394.1:p.Lys219Asn |