Linked Data
dbSNP Id:
rs778316483
ExAC:
5:89913599 A / G
gnomAD v2:
5-89913599-A-G
gnomAD v4:
5-90617782-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90617782A>G , CM000667.2:g.90617782A>G | GRCh38 |
| NC_000005.9:g.89913599A>G , CM000667.1:g.89913599A>G | GRCh37 |
| NC_000005.8:g.89949355A>G | NCBI36 |
| NG_007083.1:g.63983A>G | |
| NG_007083.2:g.93439A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.208-22A>G MANE Select | ENSP00000384582.2:n.208-22A>G | |
| ENST00000638316.1:n.418-22A>G | ||
| ENST00000638638.1:n.593A>G | ||
| ENST00000640109.1:n.304-22A>G | ||
| ENST00000640281.1:n.267-22A>G | ||
| ENST00000405460.6:c.208-22A>G | ENSP00000384582.2:n.208-22A>G | |
| ENST00000508842.5:c.220-22A>G | ENSP00000425936.1:n.220-22A>G | |
| NM_032119.3:c.208-22A>G | NP_115495.3:n.208-22A>G | |
| NR_003149.1:n.304-22A>G | ||
| XM_011543675.1:c.208-22A>G | XP_011541977.1:n.208-22A>G | |
| XM_011543676.1:c.208-22A>G | XP_011541978.1:n.208-22A>G | |
| XM_011543678.1:c.208-22A>G | XP_011541980.1:n.208-22A>G | |
| XM_011543679.1:c.208-22A>G | XP_011541981.1:n.208-22A>G | |
| NM_032119.4:c.208-22A>G MANE Select | NP_115495.3:n.208-22A>G | |
| XM_017009963.2:c.208-22A>G | XP_016865452.1:n.208-22A>G | |
| XM_017009964.2:c.208-22A>G | XP_016865453.1:n.208-22A>G | |
| XM_017009965.1:c.205-22A>G | XP_016865454.1:n.205-22A>G | |
| XM_017009966.2:c.208-22A>G | XP_016865455.1:n.208-22A>G | |
| XM_017009967.1:c.208-22A>G | XP_016865456.1:n.208-22A>G | |
| XM_017009968.2:c.208-22A>G | XP_016865457.1:n.208-22A>G | |
| XM_017009969.2:c.208-22A>G | XP_016865458.1:n.208-22A>G | |
| XM_017009970.2:c.208-22A>G | XP_016865459.1:n.208-22A>G | |
| XM_017009971.2:c.208-22A>G | XP_016865460.1:n.208-22A>G | |
| XM_017009974.2:c.208-22A>G | XP_016865463.1:n.208-22A>G | |
| NR_003149.2:n.307-22A>G |