Linked Data
dbSNP Id:
rs371962881
ExAC:
17:64224221 G / A
gnomAD v2:
17-64224221-G-A
gnomAD v3:
17-66228103-G-A
gnomAD v4:
17-66228103-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228103G>A , CM000679.2:g.66228103G>A | GRCh38 |
| NC_000017.10:g.64224221G>A , CM000679.1:g.64224221G>A | GRCh37 |
| NC_000017.9:g.61654683G>A | NCBI36 |
| NG_012045.1:g.6336C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.158C>T MANE Select | ENSP00000205948.6:p.Pro53Leu | |
| ENST00000205948.10:c.158C>T | ENSP00000205948.6:p.Pro53Leu | |
| ENST00000577982.1:c.158C>T | ENSP00000464301.1:p.Pro53Leu | |
| ENST00000581797.5:c.-23C>T | ENSP00000463553.1:n.-23C>T | |
| NM_000042.2:c.158C>T | NP_000033.2:p.Pro53Leu | |
| NM_000042.3:c.158C>T MANE Select | NP_000033.2:p.Pro53Leu |