Linked Data
dbSNP Id:
rs1595229356
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74493468G>A , CM000676.2:g.74493468G>A | GRCh38 |
| NC_000014.8:g.74960171G>A , CM000676.1:g.74960171G>A | GRCh37 |
| NC_000014.7:g.74029924G>A | NCBI36 |
| NG_007117.1:g.4914C>T | |
| NG_033074.1:g.4749G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555592.1:c.-64+102C>T | ENSP00000450887.1:n.-64+102C>T | |
| ENST00000555619.5:c.-194C>T | ENSP00000451112.1:n.-194C>T | |
| ENST00000556009.5:c.147+563C>T | ||
| NM_001363688.1:c.-194C>T | NP_001350617.1:n.-194C>T | |
| NM_006432.4:c.-194C>T | NP_006423.1:n.-194C>T |