Linked Data
dbSNP Id:
rs1459938270
gnomAD v2:
5-34998959-C-A
gnomAD v3:
5-34998854-C-A
gnomAD v4:
5-34998854-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.34998854C>A , CM000667.2:g.34998854C>A | GRCh38 |
| NC_000005.9:g.34998959C>A , CM000667.1:g.34998959C>A | GRCh37 |
| NC_000005.8:g.35034716C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231420.11:c.1438-28G>T MANE Select | ENSP00000231420.6:n.1438-28G>T | |
| ENST00000231420.10:c.1438-28G>T | ENSP00000231420.6:n.1438-28G>T | |
| ENST00000510428.1:c.1213-28G>T | ENSP00000422799.1:n.1213-28G>T | |
| ENST00000512135.5:n.1108-28G>T | ||
| ENST00000618015.4:c.1213-28G>T | ENSP00000479154.1:n.1213-28G>T | |
| NM_001306173.1:c.1213-28G>T | NP_001293102.1:n.1213-28G>T | |
| NM_031900.3:c.1438-28G>T | NP_114106.1:n.1438-28G>T | |
| XM_005248337.2:c.1435-28G>T | XP_005248394.1:n.1435-28G>T | |
| XM_005248338.2:c.1243-28G>T | XP_005248395.1:n.1243-28G>T | |
| XM_011514077.1:c.1438-452G>T | XP_011512379.1:n.1438-452G>T | |
| XM_005248337.3:c.1435-28G>T | XP_005248394.1:n.1435-28G>T | |
| XM_005248338.3:c.1243-28G>T | XP_005248395.1:n.1243-28G>T | |
| XM_017009748.2:c.1213-28G>T | XP_016865237.1:n.1213-28G>T | |
| NM_031900.4:c.1438-28G>T MANE Select | NP_114106.1:n.1438-28G>T | |
| NM_001306173.2:c.1213-28G>T | NP_001293102.1:n.1213-28G>T |