Linked Data
dbSNP Id:
rs748140289
ExAC:
1:94522336 G / A
gnomAD v2:
1-94522336-G-A
gnomAD v4:
1-94056780-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94056780G>A , CM000663.2:g.94056780G>A | GRCh38 |
| NC_000001.10:g.94522336G>A , CM000663.1:g.94522336G>A | GRCh37 |
| NC_000001.9:g.94294924G>A | NCBI36 |
| NG_009073.1:g.69370C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2203C>T MANE Select | ENSP00000359245.3:p.Leu735= | |
| ENST00000649773.1:c.2161-1465C>T | ENSP00000496882.1:n.2161-1465C>T | |
| ENST00000370225.3:c.2203C>T | ENSP00000359245.3:p.Leu735= | |
| ENST00000536513.5:c.-65+6394C>T | ENSP00000439707.2:n.-65+6394C>T | |
| NM_000350.2:c.2203C>T | NP_000341.2:p.Leu735= | |
| NM_000350.3:c.2203C>T MANE Select | NP_000341.2:p.Leu735= |