Linked Data
dbSNP Id:
rs1475266569
gnomAD v2:
9-71679950-A-C
gnomAD v3:
9-69065034-A-C
gnomAD v4:
9-69065034-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69065034A>C , CM000671.2:g.69065034A>C | GRCh38 |
| NC_000009.11:g.71679950A>C , CM000671.1:g.71679950A>C | GRCh37 |
| NC_000009.10:g.70869770A>C | NCBI36 |
| NG_008845.2:g.34472A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377270.8:c.256A>C | ENSP00000366482.4:p.Ser86Arg | |
| ENST00000484259.3:c.481A>C MANE Select | ENSP00000419243.2:p.Ser161Arg | |
| ENST00000642330.1:c.384+11774A>C | ENSP00000493770.1:n.384+11774A>C | |
| ENST00000642889.1:c.165+29087A>C | ENSP00000493780.1:n.165+29087A>C | |
| ENST00000643352.1:c.481A>C | ENSP00000496488.1:p.Arg161= | |
| ENST00000643765.1:c.479A>C | ||
| ENST00000644653.1:c.*84A>C | ENSP00000495217.1:n.*84A>C | |
| ENST00000644977.1:c.*206A>C | ENSP00000495651.1:n.*206A>C | |
| ENST00000645088.1:c.*84A>C | ENSP00000495447.1:n.*84A>C | |
| ENST00000646862.1:c.384+11774A>C | ENSP00000494599.1:n.384+11774A>C | |
| ENST00000377270.7:c.481A>C | ENSP00000366482.3:p.Ser161Arg | |
| ENST00000396364.7:c.481A>C | ENSP00000379650.3:p.Arg161= | |
| ENST00000396366.6:c.481A>C | ENSP00000379652.2:p.Arg161= | |
| ENST00000484259.1:c.173A>C | ||
| ENST00000498653.5:c.256A>C | ENSP00000418015.1:p.Ser86Arg | |
| NM_000144.4:c.481A>C | NP_000135.2:p.Ser161Arg | |
| NM_001161706.1:c.481A>C | NP_001155178.1:p.Arg161= | |
| NM_181425.2:c.481A>C | NP_852090.1:p.Arg161= | |
| NM_000144.5:c.481A>C MANE Select | NP_000135.2:p.Ser161Arg | |
| NM_181425.3:c.481A>C | NP_852090.1:p.Arg161= |