Linked Data
dbSNP Id:
rs748072258
ExAC:
16:5077961 T / A
gnomAD v2:
16-5077961-T-A
gnomAD v3:
16-5027960-T-A
gnomAD v4:
16-5027960-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5027960T>A , CM000678.2:g.5027960T>A | GRCh38 |
| NC_000016.9:g.5077961T>A , CM000678.1:g.5077961T>A | GRCh37 |
| NC_000016.8:g.5017962T>A | NCBI36 |
| NG_028152.1:g.10982A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312251.8:c.1126+20A>T MANE Select | ENSP00000310998.3:n.1126+20A>T | |
| ENST00000649828.1:c.*298+20A>T | ENSP00000498032.1:n.*298+20A>T | |
| ENST00000312251.7:c.1126+20A>T | ENSP00000310998.3:n.1126+20A>T | |
| ENST00000381955.7:c.1126+20A>T | ENSP00000371381.3:n.1126+20A>T | |
| ENST00000562746.5:c.*298+20A>T | ENSP00000455900.1:n.*298+20A>T | |
| ENST00000563578.5:c.738+920A>T | ||
| ENST00000564397.5:n.2179+20A>T | ||
| ENST00000565876.5:c.481-581A>T | ||
| ENST00000566137.5:n.424+20A>T | ||
| ENST00000567739.5:n.445+20A>T | ||
| ENST00000568202.5:n.989+20A>T | ||
| ENST00000569296.5:c.739+20A>T | ENSP00000465949.1:n.739+20A>T | |
| NM_016256.3:c.1126+20A>T | NP_057340.2:n.1126+20A>T | |
| XM_011522517.1:c.1126+20A>T | XP_011520819.1:n.1126+20A>T | |
| XR_243285.1:n.1222+20A>T | ||
| XM_011522517.3:c.1126+20A>T | XP_011520819.1:n.1126+20A>T | |
| XR_001751908.2:n.1221+20A>T | ||
| XR_001751909.2:n.1225+20A>T | ||
| XR_001751910.2:n.1254+20A>T | ||
| XR_001751911.2:n.1254+20A>T | ||
| XR_001751912.2:n.1258+20A>T | ||
| NM_016256.4:c.1126+20A>T MANE Select | NP_057340.2:n.1126+20A>T |