Linked Data
dbSNP Id:
rs75885572
ExAC:
17:16852198 C / T
gnomAD v2:
17-16852198-C-T
gnomAD v3:
17-16948884-C-T
gnomAD v4:
17-16948884-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16948884C>T , CM000679.2:g.16948884C>T | GRCh38 |
| NC_000017.10:g.16852198C>T , CM000679.1:g.16852198C>T | GRCh37 |
| NC_000017.9:g.16792923C>T | NCBI36 |
| NG_007281.1:g.28205G>A , LRG_120:g.28205G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.299G>A MANE Select | ENSP00000261652.2:p.Cys100Tyr | |
| ENST00000261652.6:c.299G>A | ENSP00000261652.2:p.Cys100Tyr | |
| ENST00000579315.5:c.299G>A | ENSP00000464069.1:p.Cys100Tyr | |
| ENST00000581616.2:n.302G>A | ||
| ENST00000582931.5:n.203G>A | ||
| ENST00000583789.1:c.161G>A | ENSP00000462952.1:p.Cys54Tyr | |
| ENST00000584950.5:c.161G>A | ENSP00000463582.1:p.Cys54Tyr | |
| NM_012452.2:c.299G>A , LRG_120t1:c.299G>A | NP_036584.1:p.Cys100Tyr | |
| NM_012452.3:c.299G>A MANE Select | NP_036584.1:p.Cys100Tyr |