Linked Data
dbSNP Id:
rs751941952
ExAC:
2:96919893 G / C
gnomAD v2:
2-96919893-G-C
gnomAD v3:
2-96254155-G-C
gnomAD v4:
2-96254155-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96254155G>C , CM000664.2:g.96254155G>C | GRCh38 |
| NC_000002.11:g.96919893G>C , CM000664.1:g.96919893G>C | GRCh37 |
| NC_000002.10:g.96283620G>C | NCBI36 |
| NG_027695.1:g.16859C>G , LRG_528:g.16859C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258439.8:c.410-40C>G MANE Select | ENSP00000258439.3:n.410-40C>G | |
| ENST00000258439.7:c.410-40C>G | ENSP00000258439.2:n.410-40C>G | |
| ENST00000432959.1:c.410-40C>G | ENSP00000416660.1:n.410-40C>G | |
| ENST00000435268.1:c.158-40C>G | ENSP00000411810.1:n.158-40C>G | |
| NM_001193304.2:c.410-40C>G | NP_001180233.1:n.410-40C>G | |
| NM_017849.3:c.410-40C>G , LRG_528t1:c.410-40C>G | NP_060319.1:n.410-40C>G | |
| XM_017004450.1:c.-509-40C>G | XP_016859939.1:n.-509-40C>G | |
| XM_017004452.1:c.158-40C>G | XP_016859941.1:n.158-40C>G | |
| NM_001193304.3:c.410-40C>G | NP_001180233.1:n.410-40C>G | |
| NM_017849.4:c.410-40C>G MANE Select | NP_060319.1:n.410-40C>G |