Linked Data
dbSNP Id:
rs770810204
ExAC:
1:160109387 C / T
gnomAD v2:
1-160109387-C-T
gnomAD v3:
1-160139597-C-T
gnomAD v4:
1-160139597-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160139597C>T , CM000663.2:g.160139597C>T | GRCh38 |
| NC_000001.10:g.160109387C>T , CM000663.1:g.160109387C>T | GRCh37 |
| NC_000001.9:g.158376011C>T | NCBI36 |
| NG_008014.1:g.28840C>T , LRG_6:g.28840C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.2841-43C>T MANE Select | ENSP00000354490.3:n.2841-43C>T | |
| ENST00000361216.7:c.2841-43C>T | ENSP00000354490.3:n.2841-43C>T | |
| ENST00000392233.7:c.2841-43C>T | ENSP00000376066.3:n.2841-43C>T | |
| ENST00000447527.1:c.1922-43C>T | ||
| ENST00000463989.1:n.177-43C>T | ||
| NM_000702.3:c.2841-43C>T | NP_000693.1:n.2841-43C>T | |
| NM_000702.4:c.2841-43C>T MANE Select | NP_000693.1:n.2841-43C>T |