Linked Data
dbSNP Id:
rs1076165
gnomAD v2:
17-2773400-G-A
gnomAD v3:
17-2870106-G-A
gnomAD v4:
17-2870106-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2870106G>A , CM000679.2:g.2870106G>A | GRCh38 |
| NC_000017.10:g.2773400G>A , CM000679.1:g.2773400G>A | GRCh37 |
| NC_000017.9:g.2720150G>A | NCBI36 |
| NG_013030.1:g.78669G>A | |
| NG_013030.2:g.119409G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697391.1:c.107+16004G>A | ENSP00000513294.1:n.107+16004G>A | |
| ENST00000254695.13:c.81-35178G>A MANE Select | ENSP00000254695.8:n.81-35178G>A | |
| ENST00000637138.1:c.204-35178G>A | ENSP00000490321.1:n.204-35178G>A | |
| ENST00000254695.12:c.81-35178G>A | ENSP00000254695.8:n.81-35178G>A | |
| ENST00000366401.8:c.81-35178G>A | ENSP00000389824.2:n.81-35178G>A | |
| ENST00000540393.6:c.24-35178G>A | ENSP00000439688.2:n.24-35178G>A | |
| ENST00000542807.1:c.81-35178G>A | ENSP00000444890.1:n.81-35178G>A | |
| NM_001100398.1:c.81-35178G>A | NP_001093868.1:n.81-35178G>A | |
| NM_015085.4:c.81-35178G>A | NP_055900.4:n.81-35178G>A | |
| XM_005256541.1:c.117-35178G>A | XP_005256598.1:n.117-35178G>A | |
| XM_005256542.2:c.107+16004G>A | XP_005256599.1:n.107+16004G>A | |
| XM_006721477.2:c.24-35178G>A | XP_006721540.1:n.24-35178G>A | |
| XM_011523738.1:c.204-35178G>A | XP_011522040.1:n.204-35178G>A | |
| XM_011523739.1:c.204-35178G>A | XP_011522041.1:n.204-35178G>A | |
| XM_011523740.1:c.69-35178G>A | XP_011522042.1:n.69-35178G>A | |
| XM_011523741.1:c.24-35178G>A | XP_011522043.1:n.24-35178G>A | |
| NM_001330058.1:c.24-35178G>A | NP_001316987.1:n.24-35178G>A | |
| XM_011523738.2:c.204-35178G>A | XP_011522040.1:n.204-35178G>A | |
| XM_011523739.2:c.204-35178G>A | XP_011522041.1:n.204-35178G>A | |
| XM_011523741.2:c.24-35178G>A | XP_011522043.1:n.24-35178G>A | |
| XM_017024371.1:c.54-35178G>A | XP_016879860.1:n.54-35178G>A | |
| XM_024450659.1:c.204-35178G>A | XP_024306427.1:n.204-35178G>A | |
| NM_015085.5:c.81-35178G>A MANE Select | NP_055900.4:n.81-35178G>A | |
| NM_001100398.2:c.81-35178G>A | NP_001093868.1:n.81-35178G>A | |
| NM_001330058.2:c.24-35178G>A | NP_001316987.1:n.24-35178G>A |