Linked Data
dbSNP Id:
rs761957254
ExAC:
6:123101552 A / C
gnomAD v2:
6-123101552-A-C
gnomAD v3:
6-122780407-A-C
gnomAD v4:
6-122780407-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.122780407A>C , CM000668.2:g.122780407A>C | GRCh38 |
| NC_000006.11:g.123101552A>C , CM000668.1:g.123101552A>C | GRCh37 |
| NC_000006.10:g.123143251A>C | NCBI36 |
| NG_050619.1:g.36207A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368444.8:c.190A>C MANE Select | ENSP00000357429.3:p.Ser64Arg | |
| ENST00000356535.4:c.190A>C | ENSP00000348931.4:p.Ser64Arg | |
| ENST00000368444.7:c.190A>C | ENSP00000357429.3:p.Ser64Arg | |
| NM_001446.3:c.190A>C | NP_001437.1:p.Ser64Arg | |
| XM_005266858.2:c.190A>C | XP_005266915.1:p.Ser64Arg | |
| NM_001319039.1:c.190A>C | NP_001305968.1:p.Ser64Arg | |
| NM_001319041.1:c.190A>C | NP_001305970.1:p.Ser64Arg | |
| NM_001319042.1:c.178A>C | NP_001305971.1:p.Ser60Arg | |
| NM_001446.4:c.190A>C | NP_001437.1:p.Ser64Arg | |
| NM_001446.5:c.190A>C MANE Select | NP_001437.1:p.Ser64Arg | |
| NM_001319041.2:c.190A>C | NP_001305970.1:p.Ser64Arg | |
| NM_001319039.2:c.190A>C | NP_001305968.1:p.Ser64Arg | |
| NM_001319042.2:c.178A>C | NP_001305971.1:p.Ser60Arg |