Linked Data
dbSNP Id:
rs778178434
ExAC:
16:1411890 G / A
gnomAD v2:
16-1411890-G-A
gnomAD v4:
16-1361889-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1361889G>A , CM000678.2:g.1361889G>A | GRCh38 |
| NC_000016.9:g.1411890G>A , CM000678.1:g.1411890G>A | GRCh37 |
| NC_000016.8:g.1351891G>A | NCBI36 |
| NG_016985.1:g.14991G>A | |
| NG_033129.1:g.57816C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527168.6:n.350G>A | ||
| ENST00000529110.2:c.335G>A | ENSP00000435349.2:p.Cys112Tyr | |
| ENST00000529957.6:n.309G>A | ||
| ENST00000683366.1:c.196G>A | ENSP00000507283.1:p.Ala66Thr | |
| ENST00000683887.1:c.299G>A | ENSP00000506886.1:p.Cys100Tyr | |
| ENST00000684100.1:n.245G>A | ||
| ENST00000684126.1:n.309G>A | ||
| ENST00000684688.1:n.876G>A | ||
| ENST00000204679.9:c.251G>A MANE Select | ENSP00000204679.4:p.Cys84Tyr | |
| ENST00000204679.8:c.251G>A | ENSP00000204679.4:p.Cys84Tyr | |
| ENST00000526820.5:c.*153G>A | ENSP00000434413.1:n.*153G>A | |
| ENST00000527076.1:n.1267G>A | ||
| ENST00000527168.5:n.287G>A | ||
| ENST00000529110.1:c.318G>A | ||
| ENST00000529957.5:n.350G>A | ||
| NM_032520.4:c.251G>A | NP_115909.1:p.Cys84Tyr | |
| XM_017023782.1:c.299G>A | XP_016879271.1:p.Cys100Tyr | |
| XM_017023783.1:c.-110G>A | XP_016879272.1:n.-110G>A | |
| NM_032520.5:c.251G>A MANE Select | NP_115909.1:p.Cys84Tyr |