Linked Data
dbSNP Id:
rs568072930
gnomAD v2:
6-39016777-G-A
gnomAD v3:
6-39049001-G-A
gnomAD v4:
6-39049001-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39049001G>A , CM000668.2:g.39049001G>A | GRCh38 |
| NC_000006.11:g.39016777G>A , CM000668.1:g.39016777G>A | GRCh37 |
| NC_000006.10:g.39124755G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373256.5:c.78+83G>A MANE Select | ENSP00000362353.4:n.78+83G>A | |
| ENST00000373256.4:c.78+83G>A | ENSP00000362353.4:n.78+83G>A | |
| NM_002062.3:c.78+83G>A | NP_002053.3:n.78+83G>A | |
| XR_926153.1:n.138+83G>A | ||
| XR_926154.1:n.138+83G>A | ||
| XR_926155.1:n.138+83G>A | ||
| NM_002062.4:c.78+83G>A | NP_002053.3:n.78+83G>A | |
| NR_136562.1:n.138+83G>A | ||
| NR_136563.1:n.138+83G>A | ||
| NM_002062.5:c.78+83G>A MANE Select | NP_002053.3:n.78+83G>A | |
| NR_136562.2:n.138+83G>A | ||
| NR_136563.2:n.138+83G>A |