Linked Data
dbSNP Id:
rs1397529382
gnomAD v2:
6-123101554-T-C
gnomAD v3:
6-122780409-T-C
gnomAD v4:
6-122780409-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.122780409T>C , CM000668.2:g.122780409T>C | GRCh38 |
| NC_000006.11:g.123101554T>C , CM000668.1:g.123101554T>C | GRCh37 |
| NC_000006.10:g.123143253T>C | NCBI36 |
| NG_050619.1:g.36209T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368444.8:c.192T>C MANE Select | ENSP00000357429.3:p.Ser64= | |
| ENST00000356535.4:c.192T>C | ENSP00000348931.4:p.Ser64= | |
| ENST00000368444.7:c.192T>C | ENSP00000357429.3:p.Ser64= | |
| NM_001446.3:c.192T>C | NP_001437.1:p.Ser64= | |
| XM_005266858.2:c.192T>C | XP_005266915.1:p.Ser64= | |
| NM_001319039.1:c.192T>C | NP_001305968.1:p.Ser64= | |
| NM_001319041.1:c.192T>C | NP_001305970.1:p.Ser64= | |
| NM_001319042.1:c.180T>C | NP_001305971.1:p.Ser60= | |
| NM_001446.4:c.192T>C | NP_001437.1:p.Ser64= | |
| NM_001446.5:c.192T>C MANE Select | NP_001437.1:p.Ser64= | |
| NM_001319041.2:c.192T>C | NP_001305970.1:p.Ser64= | |
| NM_001319039.2:c.192T>C | NP_001305968.1:p.Ser64= | |
| NM_001319042.2:c.180T>C | NP_001305971.1:p.Ser60= |