Linked Data
dbSNP Id:
rs1405171074
gnomAD v2:
X-48369952-C-T
gnomAD v3:
X-48511564-C-T
gnomAD v4:
X-48511564-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48511564C>T , CM000685.2:g.48511564C>T | GRCh38 |
| NC_000023.10:g.48369952C>T , CM000685.1:g.48369952C>T | GRCh37 |
| NC_000023.9:g.48254896C>T | NCBI36 |
| NG_009278.1:g.7582C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367574.9:c.329+77C>T | ENSP00000356546.6:n.329+77C>T | |
| ENST00000537758.6:c.329+77C>T | ENSP00000446401.3:n.329+77C>T | |
| ENST00000682661.1:n.488+77C>T | ||
| ENST00000683923.1:c.329+77C>T | ENSP00000506737.1:n.329+77C>T | |
| ENST00000684722.1:n.511+77C>T | ||
| ENST00000326194.11:c.329+77C>T MANE Select | ENSP00000322304.6:n.329+77C>T | |
| ENST00000485288.7:c.258+77C>T | ENSP00000420445.3:n.258+77C>T | |
| ENST00000326194.10:c.329+77C>T | ENSP00000322304.6:n.329+77C>T | |
| ENST00000355092.4:c.194+77C>T | ENSP00000347207.4:n.194+77C>T | |
| ENST00000355961.8:c.329+77C>T | ENSP00000348233.4:n.329+77C>T | |
| ENST00000359882.8:c.329+77C>T | ENSP00000352946.4:n.329+77C>T | |
| ENST00000361988.7:c.329+77C>T | ENSP00000354978.3:n.329+77C>T | |
| ENST00000367574.8:c.329+77C>T | ENSP00000356546.5:n.329+77C>T | |
| ENST00000470275.2:c.258+77C>T | ENSP00000418644.2:n.258+77C>T | |
| ENST00000472520.5:c.137-328C>T | ENSP00000419858.1:n.137-328C>T | |
| ENST00000485288.6:c.450+77C>T | ENSP00000420445.2:n.450+77C>T | |
| ENST00000491243.5:n.368+77C>T | ||
| ENST00000528612.5:c.258+77C>T | ENSP00000431224.1:n.258+77C>T | |
| ENST00000537758.5:c.329+77C>T | ENSP00000446401.2:n.329+77C>T | |
| NM_001282167.1:c.116+77C>T | NP_001269096.1:n.116+77C>T | |
| NM_022825.3:c.329+77C>T | NP_073736.2:n.329+77C>T | |
| NM_203473.2:c.329+77C>T | NP_982299.1:n.329+77C>T | |
| NM_203474.1:c.329+77C>T | NP_982300.1:n.329+77C>T | |
| NM_203475.2:c.329+77C>T | NP_982301.1:n.329+77C>T | |
| XM_005272635.1:c.668+77C>T | XP_005272692.1:n.668+77C>T | |
| XM_005272636.1:c.668+77C>T | XP_005272693.1:n.668+77C>T | |
| XM_005272637.1:c.581+77C>T | XP_005272694.1:n.581+77C>T | |
| XM_006724544.2:c.434+77C>T | XP_006724607.1:n.434+77C>T | |
| XM_006724545.2:c.380+77C>T | XP_006724608.1:n.380+77C>T | |
| XM_006724546.2:c.329+77C>T | XP_006724609.1:n.329+77C>T | |
| XM_006724547.1:c.116+77C>T | XP_006724610.1:n.116+77C>T | |
| XM_011543948.1:c.116+77C>T | XP_011542250.1:n.116+77C>T | |
| XM_024452425.1:c.668+77C>T | XP_024308193.1:n.668+77C>T | |
| NM_001282167.2:c.116+77C>T | NP_001269096.1:n.116+77C>T | |
| NM_022825.4:c.329+77C>T | NP_073736.2:n.329+77C>T | |
| NM_203473.3:c.329+77C>T | NP_982299.1:n.329+77C>T | |
| NM_203475.3:c.329+77C>T MANE Select | NP_982301.1:n.329+77C>T |