Linked Data
dbSNP Id:
rs7021663
gnomAD v2:
9-136676014-T-C
gnomAD v3:
9-133810892-T-C
gnomAD v4:
9-133810892-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133810892T>C , CM000671.2:g.133810892T>C | GRCh38 |
| NC_000009.11:g.136676014T>C , CM000671.1:g.136676014T>C | GRCh37 |
| NC_000009.10:g.135665835T>C | NCBI36 |
| NG_029725.1:g.186433A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371850.8:c.553-687A>G MANE Select | ENSP00000360916.3:n.553-687A>G | |
| ENST00000371850.7:c.553-687A>G | ENSP00000360916.3:n.553-687A>G | |
| ENST00000371851.1:c.552+1222A>G | ENSP00000360917.1:n.552+1222A>G | |
| ENST00000406606.7:c.552+1222A>G | ENSP00000385362.3:n.552+1222A>G | |
| NM_001134398.1:c.553-687A>G | NP_001127870.1:n.553-687A>G | |
| NM_003371.3:c.552+1222A>G | NP_003362.2:n.552+1222A>G | |
| XM_005272213.1:c.552+1222A>G | XP_005272270.1:n.552+1222A>G | |
| XM_006717277.1:c.552+1222A>G | XP_006717340.1:n.552+1222A>G | |
| XM_011518983.1:c.552+1222A>G | XP_011517285.1:n.552+1222A>G | |
| XM_011518984.1:c.552+1222A>G | XP_011517286.1:n.552+1222A>G | |
| XM_017015108.1:c.553-687A>G | XP_016870597.1:n.553-687A>G | |
| XM_017015109.1:c.552+1222A>G | XP_016870598.1:n.552+1222A>G | |
| XM_017015110.1:c.553-687A>G | XP_016870599.1:n.553-687A>G | |
| XM_017015111.1:c.553-687A>G | XP_016870600.1:n.553-687A>G | |
| XM_017015112.1:c.553-687A>G | XP_016870601.1:n.553-687A>G | |
| XM_017015113.1:c.553-687A>G | XP_016870602.1:n.553-687A>G | |
| NM_001134398.2:c.553-687A>G MANE Select | NP_001127870.1:n.553-687A>G | |
| NM_003371.4:c.552+1222A>G | NP_003362.2:n.552+1222A>G |