Linked Data
dbSNP Id:
rs760907398
ExAC:
11:69462901 G / C
gnomAD v2:
11-69462901-G-C
gnomAD v4:
11-69648133-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648133G>C , CM000673.2:g.69648133G>C | GRCh38 |
| NC_000011.9:g.69462901G>C , CM000673.1:g.69462901G>C | GRCh37 |
| NC_000011.8:g.69172082G>C | NCBI36 |
| NG_007375.1:g.12029G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.714G>C MANE Select | ENSP00000227507.2:p.Lys238Asn | |
| ENST00000227507.2:c.714G>C | ENSP00000227507.2:p.Lys238Asn | |
| ENST00000536559.1:c.*134G>C | ENSP00000438482.1:n.*134G>C | |
| ENST00000542367.1:n.177G>C | ||
| ENST00000545484.1:n.420G>C | ||
| NM_053056.2:c.714G>C | NP_444284.1:p.Lys238Asn | |
| XM_006718653.2:c.738G>C | XP_006718716.1:p.Lys246Asn | |
| NM_053056.3:c.714G>C MANE Select | NP_444284.1:p.Lys238Asn |