Linked Data
dbSNP Id:
rs2568494
gnomAD v2:
15-78740964-G-A
gnomAD v3:
15-78448622-G-A
gnomAD v4:
15-78448622-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78448622G>A , CM000677.2:g.78448622G>A | GRCh38 |
| NC_000015.9:g.78740964G>A , CM000677.1:g.78740964G>A | GRCh37 |
| NC_000015.8:g.76528019G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258886.13:c.106+8741G>A MANE Select | ENSP00000258886.8:n.106+8741G>A | |
| ENST00000258886.12:c.106+8741G>A | ENSP00000258886.8:n.106+8741G>A | |
| ENST00000558525.5:c.101+8746G>A | ENSP00000453058.1:n.101+8746G>A | |
| ENST00000558570.5:c.106+8741G>A | ENSP00000454063.1:n.106+8741G>A | |
| ENST00000559215.5:c.106+8741G>A | ENSP00000453532.1:n.106+8741G>A | |
| ENST00000560440.5:c.106+8741G>A | ENSP00000452938.1:n.106+8741G>A | |
| ENST00000560454.1:n.522+8741G>A | ||
| ENST00000560840.5:c.-66+8741G>A | ENSP00000453172.1:n.-66+8741G>A | |
| NM_004136.2:c.106+8741G>A | NP_004127.1:n.106+8741G>A | |
| NM_001320941.1:c.-575+8741G>A | NP_001307870.1:n.-575+8741G>A | |
| NM_001320942.1:c.-66+8741G>A | NP_001307871.1:n.-66+8741G>A | |
| NM_001320943.1:c.106+8741G>A | NP_001307872.1:n.106+8741G>A | |
| NM_001354994.1:c.-66+8741G>A | NP_001341923.1:n.-66+8741G>A | |
| NM_004136.3:c.106+8741G>A | NP_004127.1:n.106+8741G>A | |
| NM_004136.4:c.106+8741G>A MANE Select | NP_004127.2:n.106+8741G>A | |
| NM_001320941.2:c.-575+8741G>A | NP_001307870.2:n.-575+8741G>A | |
| NM_001320942.2:c.-66+8741G>A | NP_001307871.2:n.-66+8741G>A | |
| NM_001320943.2:c.106+8741G>A | NP_001307872.1:n.106+8741G>A | |
| NM_001354994.2:c.-66+8741G>A | NP_001341923.2:n.-66+8741G>A |