Linked Data
dbSNP Id:
rs778329355
ExAC:
19:18895746 T / G
gnomAD v3:
19-18784936-T-G
gnomAD v4:
19-18784936-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18784936T>G , CM000681.2:g.18784936T>G | GRCh38 |
| NC_000019.9:g.18895746T>G , CM000681.1:g.18895746T>G | GRCh37 |
| NC_000019.8:g.18756746T>G | NCBI36 |
| NG_007070.1:g.11369A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1874A>C MANE Select | ENSP00000222271.2:p.Asn625Thr | |
| ENST00000222271.6:c.1874A>C | ENSP00000222271.2:p.Asn625Thr | |
| ENST00000425807.1:c.1715A>C | ENSP00000403792.1:p.Asn572Thr | |
| ENST00000542601.6:c.1775A>C | ENSP00000439156.2:p.Asn592Thr | |
| NM_000095.2:c.1874A>C | NP_000086.2:p.Asn625Thr | |
| NM_000095.3:c.1874A>C MANE Select | NP_000086.2:p.Asn625Thr |