Linked Data
dbSNP Id:
rs16838917
gnomAD v2:
2-203035423-G-A
gnomAD v3:
2-202170700-G-A
gnomAD v4:
2-202170700-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202170700G>A , CM000664.2:g.202170700G>A | GRCh38 |
| NC_000002.11:g.203035423G>A , CM000664.1:g.203035423G>A | GRCh37 |
| NC_000002.10:g.202743668G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000498697.3:c.2119+5344G>A MANE Select | ENSP00000419834.2:n.2119+5344G>A | |
| ENST00000469462.1:n.3004+5344G>A | ||
| ENST00000498697.1:c.868+5344G>A | ENSP00000419834.1:n.868+5344G>A | |
| ENST00000541917.5:c.2224+5344G>A | ENSP00000437957.2:n.2224+5344G>A | |
| NM_001277372.1:c.2224+5344G>A | NP_001264301.1:n.2224+5344G>A | |
| XM_006712171.1:c.2221+5344G>A | XP_006712234.1:n.2221+5344G>A | |
| XM_006712172.1:c.2116+5344G>A | XP_006712235.1:n.2116+5344G>A | |
| XM_011510467.1:c.2224+5344G>A | XP_011508769.1:n.2224+5344G>A | |
| XM_011510468.1:c.2119+5344G>A | XP_011508770.1:n.2119+5344G>A | |
| NM_001277372.2:c.2119+5344G>A | NP_001264301.2:n.2119+5344G>A | |
| XM_006712172.3:c.2116+5344G>A | XP_006712235.1:n.2116+5344G>A | |
| XM_017003111.2:c.2224+5344G>A | XP_016858600.1:n.2224+5344G>A | |
| NM_001277372.4:c.2119+5344G>A MANE Select | NP_001264301.2:n.2119+5344G>A | |
| NM_001367720.2:c.2116+5344G>A | NP_001354649.1:n.2116+5344G>A |