Linked Data
dbSNP Id:
rs762738195
ExAC:
19:6714244 C / A
gnomAD v2:
19-6714244-C-A
gnomAD v3:
19-6714233-C-A
gnomAD v4:
19-6714233-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714233C>A , CM000681.2:g.6714233C>A | GRCh38 |
| NC_000019.9:g.6714244C>A , CM000681.1:g.6714244C>A | GRCh37 |
| NC_000019.8:g.6665244C>A | NCBI36 |
| NG_009557.1:g.11419G>T , LRG_27:g.11419G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.492G>T | ENSP00000512083.1:p.Lys164Asn | |
| ENST00000245907.11:c.615G>T MANE Select | ENSP00000245907.4:p.Lys205Asn | |
| ENST00000245907.10:c.615G>T | ENSP00000245907.4:p.Lys205Asn | |
| ENST00000595577.1:n.119G>T | ||
| NM_000064.3:c.615G>T | NP_000055.2:p.Lys205Asn | |
| NM_000064.4:c.615G>T MANE Select | NP_000055.2:p.Lys205Asn |