Linked Data
dbSNP Id:
rs771982195
ExAC:
1:41300601 C / T
gnomAD v2:
1-41300601-C-T
gnomAD v4:
1-40834929-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40834929C>T , CM000663.2:g.40834929C>T | GRCh38 |
| NC_000001.10:g.41300601C>T , CM000663.1:g.41300601C>T | GRCh37 |
| NC_000001.9:g.41073188C>T | NCBI36 |
| NG_008139.1:g.55918C>T | |
| NG_008139.2:g.55918C>T | |
| NG_008139.3:g.56143C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347132.10:c.1614-38C>T MANE Select | ENSP00000262916.6:n.1614-38C>T | |
| ENST00000347132.9:c.1614-38C>T | ENSP00000262916.6:n.1614-38C>T | |
| ENST00000443478.3:c.1195-38C>T | ||
| ENST00000506017.1:n.933-38C>T | ||
| ENST00000509682.6:c.1452-38C>T | ENSP00000423756.2:n.1452-38C>T | |
| NM_004700.3:c.1614-38C>T | NP_004691.2:n.1614-38C>T | |
| NM_172163.2:c.1452-38C>T | NP_751895.1:n.1452-38C>T | |
| XR_946798.1:n.1620-22C>T | ||
| XR_946799.1:n.1620-22C>T | ||
| XR_946800.1:n.1369-38C>T | ||
| XM_017002792.1:c.597-38C>T | XP_016858281.1:n.597-38C>T | |
| NM_004700.4:c.1614-38C>T MANE Select | NP_004691.2:n.1614-38C>T | |
| NM_172163.3:c.1452-38C>T | NP_751895.1:n.1452-38C>T |