Linked Data
dbSNP Id:
rs2156323
gnomAD v2:
9-136720821-G-A
gnomAD v3:
9-133855699-G-A
gnomAD v4:
9-133855699-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133855699G>A , CM000671.2:g.133855699G>A | GRCh38 |
| NC_000009.11:g.136720821G>A , CM000671.1:g.136720821G>A | GRCh37 |
| NC_000009.10:g.135710642G>A | NCBI36 |
| NG_029725.1:g.141626C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371850.8:c.380+5675C>T MANE Select | ENSP00000360916.3:n.380+5675C>T | |
| ENST00000371850.7:c.380+5675C>T | ENSP00000360916.3:n.380+5675C>T | |
| ENST00000371851.1:c.380+5675C>T | ENSP00000360917.1:n.380+5675C>T | |
| ENST00000406606.7:c.380+5675C>T | ENSP00000385362.3:n.380+5675C>T | |
| NM_001134398.1:c.380+5675C>T | NP_001127870.1:n.380+5675C>T | |
| NM_003371.3:c.380+5675C>T | NP_003362.2:n.380+5675C>T | |
| XM_005272213.1:c.380+5675C>T | XP_005272270.1:n.380+5675C>T | |
| XM_006717277.1:c.380+5675C>T | XP_006717340.1:n.380+5675C>T | |
| XM_011518983.1:c.380+5675C>T | XP_011517285.1:n.380+5675C>T | |
| XM_011518984.1:c.380+5675C>T | XP_011517286.1:n.380+5675C>T | |
| XM_017015108.1:c.380+5675C>T | XP_016870597.1:n.380+5675C>T | |
| XM_017015109.1:c.380+5675C>T | XP_016870598.1:n.380+5675C>T | |
| XM_017015110.1:c.380+5675C>T | XP_016870599.1:n.380+5675C>T | |
| XM_017015111.1:c.380+5675C>T | XP_016870600.1:n.380+5675C>T | |
| XM_017015112.1:c.380+5675C>T | XP_016870601.1:n.380+5675C>T | |
| XM_017015113.1:c.380+5675C>T | XP_016870602.1:n.380+5675C>T | |
| NM_001134398.2:c.380+5675C>T MANE Select | NP_001127870.1:n.380+5675C>T | |
| NM_003371.4:c.380+5675C>T | NP_003362.2:n.380+5675C>T |