Linked Data
dbSNP Id:
rs5749511
gnomAD v2:
22-33196384-C-T
gnomAD v3:
22-32800398-C-T
gnomAD v4:
22-32800398-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32800398C>T , CM000684.2:g.32800398C>T | GRCh38 |
| NC_000022.10:g.33196384C>T , CM000684.1:g.33196384C>T | GRCh37 |
| NC_000022.9:g.31526384C>T | NCBI36 |
| NG_009117.1:g.4583C>T | |
| NG_029545.1:g.262994G>A | |
| NG_009117.2:g.3694C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358763.7:c.711+64517G>A MANE Select | ENSP00000351614.2:n.711+64517G>A | |
| ENST00000358763.6:c.711+64517G>A | ENSP00000351614.2:n.711+64517G>A | |
| ENST00000462268.1:n.225+64517G>A | ||
| NM_001135774.1:c.708+64517G>A | NP_001129246.1:n.708+64517G>A | |
| NM_003490.3:c.711+64517G>A | NP_003481.3:n.711+64517G>A | |
| NM_133633.2:c.711+64517G>A | NP_598344.2:n.711+64517G>A | |
| XM_011530405.1:c.711+64517G>A | XP_011528707.1:n.711+64517G>A | |
| XM_011530406.1:c.711+64517G>A | XP_011528708.1:n.711+64517G>A | |
| XM_011530407.1:c.711+64517G>A | XP_011528709.1:n.711+64517G>A | |
| XM_011530408.1:c.711+64517G>A | XP_011528710.1:n.711+64517G>A | |
| XM_011530409.1:c.711+64517G>A | XP_011528711.1:n.711+64517G>A | |
| XM_011530410.1:c.357+64517G>A | XP_011528712.1:n.357+64517G>A | |
| XM_011530411.1:c.711+64517G>A | XP_011528713.1:n.711+64517G>A | |
| XM_011530413.1:c.711+64517G>A | XP_011528715.1:n.711+64517G>A | |
| XM_011530414.1:c.711+64517G>A | XP_011528716.1:n.711+64517G>A | |
| XR_937927.1:n.1195+64517G>A | ||
| XM_011530405.3:c.711+64517G>A | XP_011528707.1:n.711+64517G>A | |
| XM_011530406.3:c.711+64517G>A | XP_011528708.1:n.711+64517G>A | |
| XM_011530407.3:c.711+64517G>A | XP_011528709.1:n.711+64517G>A | |
| XM_011530408.2:c.711+64517G>A | XP_011528710.1:n.711+64517G>A | |
| XM_011530410.3:c.357+64517G>A | XP_011528712.1:n.357+64517G>A | |
| XM_017028961.2:c.711+64517G>A | XP_016884450.1:n.711+64517G>A | |
| XM_017028962.2:c.711+64517G>A | XP_016884451.1:n.711+64517G>A | |
| XM_017028963.2:c.711+64517G>A | XP_016884452.1:n.711+64517G>A | |
| XM_017028964.2:c.708+64517G>A | XP_016884453.1:n.708+64517G>A | |
| XR_001755317.2:n.948+64517G>A | ||
| NM_001135774.2:c.708+64517G>A | NP_001129246.1:n.708+64517G>A | |
| NM_001369907.1:c.711+64517G>A | NP_001356836.1:n.711+64517G>A | |
| NM_001369908.1:c.711+64517G>A | NP_001356837.1:n.711+64517G>A | |
| NM_001369909.1:c.708+64517G>A | NP_001356838.1:n.708+64517G>A | |
| NM_001369910.1:c.708+64517G>A | NP_001356839.1:n.708+64517G>A | |
| NM_003490.4:c.711+64517G>A MANE Select | NP_003481.3:n.711+64517G>A | |
| NM_133633.3:c.711+64517G>A | NP_598344.2:n.711+64517G>A |