Linked Data
dbSNP Id:
rs1017001765
gnomAD v2:
17-64224223-C-A
gnomAD v3:
17-66228105-C-A
gnomAD v4:
17-66228105-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228105C>A , CM000679.2:g.66228105C>A | GRCh38 |
| NC_000017.10:g.64224223C>A , CM000679.1:g.64224223C>A | GRCh37 |
| NC_000017.9:g.61654685C>A | NCBI36 |
| NG_012045.1:g.6334G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.156G>T MANE Select | ENSP00000205948.6:p.Lys52Asn | |
| ENST00000205948.10:c.156G>T | ENSP00000205948.6:p.Lys52Asn | |
| ENST00000577982.1:c.156G>T | ENSP00000464301.1:p.Lys52Asn | |
| ENST00000581797.5:c.-25G>T | ENSP00000463553.1:n.-25G>T | |
| NM_000042.2:c.156G>T | NP_000033.2:p.Lys52Asn | |
| NM_000042.3:c.156G>T MANE Select | NP_000033.2:p.Lys52Asn |