Linked Data
ClinVar Variation Id:
922141
ClinVar RCV Id:
RCV001182031
dbSNP Id:
rs755750316
ExAC:
1:55527213 C / T
gnomAD v2:
1-55527213-C-T
gnomAD v3:
1-55061540-C-T
gnomAD v4:
1-55061540-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55061540C>T , CM000663.2:g.55061540C>T | GRCh38 |
| NC_000001.10:g.55527213C>T , CM000663.1:g.55527213C>T | GRCh37 |
| NC_000001.9:g.55299801C>T | NCBI36 |
| NG_009061.1:g.26994C>T , LRG_275:g.26994C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*187C>T | ENSP00000501161.2:n.*187C>T | |
| ENST00000710286.1:c.2204C>T | ENSP00000518176.1:p.Pro735Leu | |
| ENST00000673903.1:c.1472C>T | ENSP00000501257.1:p.Pro491Leu | |
| ENST00000673913.1:c.697C>T | ENSP00000501161.1:n.697C>T | |
| ENST00000302118.5:c.1847C>T MANE Select | ENSP00000303208.5:p.Pro616Leu | |
| ENST00000490692.1:n.2393C>T | ||
| NM_174936.3:c.1847C>T , LRG_275t1:c.1847C>T | NP_777596.2:p.Pro616Leu | |
| NR_110451.1:n.1454C>T | ||
| XM_011541193.1:c.968C>T | XP_011539495.1:p.Pro323Leu | |
| NM_174936.4:c.1847C>T MANE Select | NP_777596.2:p.Pro616Leu | |
| NR_110451.2:n.1454C>T |