Linked Data
dbSNP Id:
rs1261663892
gnomAD v2:
15-43250382-A-C
gnomAD v3:
15-42958184-A-C
gnomAD v4:
15-42958184-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42958184A>C , CM000677.2:g.42958184A>C | GRCh38 |
| NC_000015.9:g.43250382A>C , CM000677.1:g.43250382A>C | GRCh37 |
| NC_000015.8:g.41037674A>C | NCBI36 |
| NG_012182.1:g.152905T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290650.9:c.4758-94T>G MANE Select | ENSP00000290650.4:n.4758-94T>G | |
| ENST00000290650.8:c.4758-94T>G | ENSP00000290650.4:n.4758-94T>G | |
| NM_174916.2:c.4758-94T>G | NP_777576.1:n.4758-94T>G | |
| NM_174916.3:c.4758-94T>G MANE Select | NP_777576.1:n.4758-94T>G |