Linked Data
dbSNP Id:
rs2120108592
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69647999A>T , CM000673.2:g.69647999A>T | GRCh38 |
| NC_000011.9:g.69462767A>T , CM000673.1:g.69462767A>T | GRCh37 |
| NC_000011.8:g.69171948A>T | NCBI36 |
| NG_007375.1:g.11895A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.580A>T MANE Select | ENSP00000227507.2:p.Lys194Ter | |
| ENST00000227507.2:c.580A>T | ENSP00000227507.2:p.Lys194Ter | |
| ENST00000536559.1:c.204A>T | ENSP00000438482.1:p.Ter68Cys | |
| ENST00000542367.1:n.43A>T | ||
| ENST00000545484.1:n.286A>T | ||
| NM_053056.2:c.580A>T | NP_444284.1:p.Lys194Ter | |
| XM_006718653.2:c.604A>T | XP_006718716.1:p.Lys202Ter | |
| NM_053056.3:c.580A>T MANE Select | NP_444284.1:p.Lys194Ter |