Linked Data
dbSNP Id:
rs782706054
ExAC:
X:48369786 C / T
gnomAD v2:
X-48369786-C-T
gnomAD v4:
X-48511398-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48511398C>T , CM000685.2:g.48511398C>T | GRCh38 |
| NC_000023.10:g.48369786C>T , CM000685.1:g.48369786C>T | GRCh37 |
| NC_000023.9:g.48254730C>T | NCBI36 |
| NG_009278.1:g.7416C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367574.9:c.240C>T | ENSP00000356546.6:p.Leu80= | |
| ENST00000537758.6:c.240C>T | ENSP00000446401.3:p.Leu80= | |
| ENST00000682661.1:n.399C>T | ||
| ENST00000683923.1:c.240C>T | ENSP00000506737.1:p.Leu80= | |
| ENST00000684722.1:n.422C>T | ||
| ENST00000326194.11:c.240C>T MANE Select | ENSP00000322304.6:p.Leu80= | |
| ENST00000485288.7:c.169C>T | ENSP00000420445.3:p.Pro57Ser | |
| ENST00000326194.10:c.240C>T | ENSP00000322304.6:p.Leu80= | |
| ENST00000355092.4:c.105C>T | ENSP00000347207.4:p.Leu35= | |
| ENST00000355961.8:c.240C>T | ENSP00000348233.4:p.Leu80= | |
| ENST00000359882.8:c.240C>T | ENSP00000352946.4:p.Leu80= | |
| ENST00000361988.7:c.240C>T | ENSP00000354978.3:p.Leu80= | |
| ENST00000367574.8:c.240C>T | ENSP00000356546.5:p.Leu80= | |
| ENST00000470275.2:c.169C>T | ENSP00000418644.2:p.Pro57Ser | |
| ENST00000472520.5:c.137-494C>T | ENSP00000419858.1:n.137-494C>T | |
| ENST00000485288.6:c.361C>T | ENSP00000420445.2:p.Pro121Ser | |
| ENST00000489940.5:c.240C>T | ENSP00000419212.1:p.Leu80= | |
| ENST00000491243.5:n.279C>T | ||
| ENST00000528612.5:c.169C>T | ENSP00000431224.1:p.Pro57Ser | |
| ENST00000537758.5:c.240C>T | ENSP00000446401.2:p.Leu80= | |
| NM_001282167.1:c.27C>T | NP_001269096.1:p.Leu9= | |
| NM_022825.3:c.240C>T | NP_073736.2:p.Leu80= | |
| NM_203473.2:c.240C>T | NP_982299.1:p.Leu80= | |
| NM_203474.1:c.240C>T | NP_982300.1:p.Leu80= | |
| NM_203475.2:c.240C>T | NP_982301.1:p.Leu80= | |
| XM_005272635.1:c.579C>T | XP_005272692.1:p.Leu193= | |
| XM_005272636.1:c.579C>T | XP_005272693.1:p.Leu193= | |
| XM_005272637.1:c.492C>T | XP_005272694.1:p.Leu164= | |
| XM_006724544.2:c.345C>T | XP_006724607.1:p.Leu115= | |
| XM_006724545.2:c.291C>T | XP_006724608.1:p.Leu97= | |
| XM_006724546.2:c.240C>T | XP_006724609.1:p.Leu80= | |
| XM_006724547.1:c.27C>T | XP_006724610.1:p.Leu9= | |
| XM_011543948.1:c.27C>T | XP_011542250.1:p.Leu9= | |
| XM_024452425.1:c.579C>T | XP_024308193.1:p.Leu193= | |
| NM_001282167.2:c.27C>T | NP_001269096.1:p.Leu9= | |
| NM_022825.4:c.240C>T | NP_073736.2:p.Leu80= | |
| NM_203473.3:c.240C>T | NP_982299.1:p.Leu80= | |
| NM_203475.3:c.240C>T MANE Select | NP_982301.1:p.Leu80= |