Linked Data
dbSNP Id:
rs777376594
ExAC:
1:24175089 C / A
gnomAD v2:
1-24175089-C-A
gnomAD v3:
1-23848599-C-A
gnomAD v4:
1-23848599-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848599C>A , CM000663.2:g.23848599C>A | GRCh38 |
| NC_000001.10:g.24175089C>A , CM000663.1:g.24175089C>A | GRCh37 |
| NC_000001.9:g.24047676C>A | NCBI36 |
| NG_013346.1:g.24771G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1160+50G>T MANE Select | ENSP00000363603.3:n.1160+50G>T | |
| ENST00000374479.3:c.1160+50G>T | ENSP00000363603.3:n.1160+50G>T | |
| NM_000147.4:c.1160+50G>T | NP_000138.2:n.1160+50G>T | |
| XM_005245821.1:c.785+50G>T | XP_005245878.1:n.785+50G>T | |
| XM_011541167.1:c.527+50G>T | XP_011539469.1:n.527+50G>T | |
| XM_005245821.3:c.785+50G>T | XP_005245878.1:n.785+50G>T | |
| XM_011541167.3:c.527+50G>T | XP_011539469.1:n.527+50G>T | |
| XM_017000905.2:c.857+50G>T | XP_016856394.1:n.857+50G>T | |
| NM_000147.5:c.1160+50G>T MANE Select | NP_000138.2:n.1160+50G>T | |
| NR_174379.1:n.1338+50G>T | ||
| NR_174380.1:n.1387+50G>T | ||
| NR_174381.1:n.1226+50G>T | ||
| NR_174382.1:n.1623+50G>T |