Linked Data
dbSNP Id:
rs763401165
ExAC:
12:7244119 A / G
gnomAD v2:
12-7244119-A-G
gnomAD v4:
12-7091523-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7091523A>G , CM000674.2:g.7091523A>G | GRCh38 |
| NC_000012.11:g.7244119A>G , CM000674.1:g.7244119A>G | GRCh37 |
| NC_000012.10:g.7135260A>G | NCBI36 |
| NG_062465.1:g.6085T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647956.2:c.160T>C (C1R) MANE Select | ENSP00000497341.1:p.Tyr54His | |
| ENST00000535233.6:c.160T>C (C1R) | ENSP00000438636.3:p.Tyr54His | |
| ENST00000536053.6:c.202T>C (C1R) | ENSP00000444271.3:p.Tyr68His | |
| ENST00000536092.1:n.265T>C (C1R) | ||
| ENST00000538050.5:c.-156T>C (C1R) | ENSP00000444009.1:n.-156T>C | |
| ENST00000539803.5:c.627T>C (C1RL) | ||
| ENST00000540242.2:c.160T>C (C1R) | ENSP00000442946.1:p.Tyr54His | |
| ENST00000540394.5:n.919T>C (C1R) | ||
| ENST00000540610.5:c.-85+864T>C (C1R) | ENSP00000439223.1:n.-85+864T>C | |
| ENST00000541042.5:c.-156T>C (C1R) | ENSP00000441601.1:n.-156T>C | |
| ENST00000542285.5:c.160T>C (C1R) | ENSP00000438615.2:p.Tyr54His | |
| ENST00000543362.5:c.160T>C (C1R) | ENSP00000446356.1:p.Tyr54His | |
| ENST00000543835.5:c.160T>C (C1R) | ENSP00000445285.1:p.Tyr54His | |
| ENST00000545466.1:n.213T>C (C1R) | ||
| NM_001733.4:c.160T>C (C1R) | NP_001724.3:p.Tyr54His | |
| NM_001354346.1:c.202T>C (C1R) | NP_001341275.1:p.Tyr68His | |
| NM_001733.6:c.160T>C (C1R) | NP_001724.4:p.Tyr54His | |
| NM_001733.7:c.160T>C (C1R) MANE Select | NP_001724.4:p.Tyr54His | |
| NM_001354346.2:c.202T>C (C1R) | NP_001341275.1:p.Tyr68His |