Linked Data
dbSNP Id:
rs2288831
ExAC:
5:158750013 T / C
gnomAD v2:
5-158750013-T-C
gnomAD v3:
5-159323005-T-C
gnomAD v4:
5-159323005-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159323005T>C , CM000667.2:g.159323005T>C | GRCh38 |
| NC_000005.9:g.158750013T>C , CM000667.1:g.158750013T>C | GRCh37 |
| NC_000005.8:g.158682591T>C | NCBI36 |
| NG_009618.1:g.12469A>G , LRG_71:g.12469A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696750.1:c.-148-2485A>G | ENSP00000512849.1:n.-148-2485A>G | |
| ENST00000696751.1:c.364+49A>G | ENSP00000512850.1:n.364+49A>G | |
| ENST00000231228.3:c.364+49A>G MANE Select | ENSP00000231228.2:n.364+49A>G | |
| ENST00000231228.2:c.364+49A>G | ENSP00000231228.2:n.364+49A>G | |
| NM_002187.2:c.364+49A>G , LRG_71t1:c.364+49A>G | NP_002178.2:n.364+49A>G | |
| XR_001742945.1:n.147+2409T>C | ||
| NM_002187.3:c.364+49A>G MANE Select | NP_002178.2:n.364+49A>G |