Linked Data
ClinVar Variation Id:
1140641
ClinVar RCV Id:
RCV001477815
dbSNP Id:
rs768284614
ExAC:
X:107842016 C / T
gnomAD v2:
X-107842016-C-T
gnomAD v4:
X-108598786-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108598786C>T , CM000685.2:g.108598786C>T | GRCh38 |
| NC_000023.10:g.107842016C>T , CM000685.1:g.107842016C>T | GRCh37 |
| NC_000023.9:g.107728672C>T | NCBI36 |
| NG_011977.1:g.163863C>T | |
| NG_011977.2:g.163863C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.1864C>T MANE Select | ENSP00000331902.7:p.Pro622Ser | |
| ENST00000361603.7:c.1864C>T | ENSP00000354505.2:p.Pro622Ser | |
| ENST00000328300.10:c.1864C>T | ENSP00000331902.6:p.Pro622Ser | |
| ENST00000361603.6:c.1864C>T | ENSP00000354505.2:p.Pro622Ser | |
| ENST00000483338.1:n.1320C>T | ||
| NM_000495.4:c.1864C>T | NP_000486.1:p.Pro622Ser | |
| NM_033380.2:c.1864C>T | NP_203699.1:p.Pro622Ser | |
| XM_005262070.2:c.1864C>T | XP_005262127.1:p.Pro622Ser | |
| XM_005262072.3:c.1864C>T | XP_005262129.1:p.Pro622Ser | |
| XM_006724616.2:c.1864C>T | XP_006724679.1:p.Pro622Ser | |
| XM_011530849.1:c.1540C>T | XP_011529151.1:p.Pro514Ser | |
| XM_011530850.1:c.1864C>T | XP_011529152.1:p.Pro622Ser | |
| XM_011530849.2:c.1879C>T | XP_011529151.2:p.Pro627Ser | |
| XM_017029259.2:c.1879C>T | XP_016884748.1:p.Pro627Ser | |
| XM_017029260.1:c.1879C>T | XP_016884749.1:p.Pro627Ser | |
| XM_017029261.1:c.1879C>T | XP_016884750.1:p.Pro627Ser | |
| XM_017029262.2:c.1879C>T | XP_016884751.1:p.Pro627Ser | |
| XM_017029263.2:c.199C>T | XP_016884752.1:p.Pro67Ser | |
| NM_000495.5:c.1864C>T | NP_000486.1:p.Pro622Ser | |
| NM_033380.3:c.1864C>T MANE Select | NP_203699.1:p.Pro622Ser |