Linked Data
ClinVar Variation Id:
922140
dbSNP Id:
rs767139884
ExAC:
1:55527205 T / C
gnomAD v2:
1-55527205-T-C
gnomAD v3:
1-55061532-T-C
gnomAD v4:
1-55061532-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55061532T>C , CM000663.2:g.55061532T>C | GRCh38 |
| NC_000001.10:g.55527205T>C , CM000663.1:g.55527205T>C | GRCh37 |
| NC_000001.9:g.55299793T>C | NCBI36 |
| NG_009061.1:g.26986T>C , LRG_275:g.26986T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.*179T>C | ENSP00000501161.2:n.*179T>C | |
| ENST00000710286.1:c.2196T>C | ENSP00000518176.1:p.His732= | |
| ENST00000673903.1:c.1464T>C | ENSP00000501257.1:p.His488= | |
| ENST00000673913.1:c.689T>C | ENSP00000501161.1:n.689T>C | |
| ENST00000302118.5:c.1839T>C MANE Select | ENSP00000303208.5:p.His613= | |
| ENST00000490692.1:n.2385T>C | ||
| NM_174936.3:c.1839T>C , LRG_275t1:c.1839T>C | NP_777596.2:p.His613= | |
| NR_110451.1:n.1446T>C | ||
| XM_011541193.1:c.960T>C | XP_011539495.1:p.His320= | |
| NM_174936.4:c.1839T>C MANE Select | NP_777596.2:p.His613= | |
| NR_110451.2:n.1446T>C |