Linked Data
dbSNP Id:
rs13106227
gnomAD v2:
4-77418681-G-A
gnomAD v3:
4-76497528-G-A
gnomAD v4:
4-76497528-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.76497528G>A , CM000666.2:g.76497528G>A | GRCh38 |
| NC_000004.11:g.77418681G>A , CM000666.1:g.77418681G>A | GRCh37 |
| NC_000004.10:g.77637705G>A | NCBI36 |
| NG_028077.1:g.67429G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296043.7:c.169-58081G>A MANE Select | ENSP00000296043.6:n.169-58081G>A | |
| ENST00000296043.6:c.169-58081G>A | ENSP00000296043.6:n.169-58081G>A | |
| ENST00000466541.1:n.76-58081G>A | ||
| ENST00000497440.5:n.110-58081G>A | ||
| NM_020859.3:c.169-58081G>A | NP_065910.3:n.169-58081G>A | |
| XM_005263162.3:c.169-58081G>A | XP_005263219.1:n.169-58081G>A | |
| XM_006714282.2:c.63+3006G>A | XP_006714345.1:n.63+3006G>A | |
| XM_011532158.1:c.169-58078G>A | XP_011530460.1:n.169-58078G>A | |
| XM_011532159.1:c.169-58078G>A | XP_011530461.1:n.169-58078G>A | |
| XM_011532158.3:c.169-58078G>A | XP_011530460.1:n.169-58078G>A | |
| XM_017008488.1:c.63+3006G>A | XP_016863977.1:n.63+3006G>A | |
| XM_017008489.1:c.63+2896G>A | XP_016863978.1:n.63+2896G>A | |
| NM_020859.4:c.169-58081G>A MANE Select | NP_065910.3:n.169-58081G>A |