Linked Data
dbSNP Id:
rs768177945
ExAC:
17:42458241 G / C
gnomAD v2:
17-42458241-G-C
gnomAD v3:
17-44380873-G-C
gnomAD v4:
17-44380873-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44380873G>C , CM000679.2:g.44380873G>C | GRCh38 |
| NC_000017.10:g.42458241G>C , CM000679.1:g.42458241G>C | GRCh37 |
| NC_000017.9:g.39813767G>C | NCBI36 |
| NG_008331.1:g.13633C>G , LRG_479:g.13633C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.1393+6C>G MANE Select | ENSP00000262407.5:n.1393+6C>G | |
| ENST00000648408.1:c.824+6C>G | ||
| ENST00000262407.5:c.1393+6C>G | ENSP00000262407.5:n.1393+6C>G | |
| ENST00000592226.5:n.639C>G | ||
| ENST00000592462.5:n.188+6C>G | ||
| NM_000419.3:c.1393+6C>G , LRG_479t1:c.1393+6C>G | NP_000410.2:n.1393+6C>G | |
| XM_011524749.1:c.1393+6C>G | XP_011523051.1:n.1393+6C>G | |
| XM_011524750.1:c.1393+6C>G | XP_011523052.1:n.1393+6C>G | |
| NM_000419.4:c.1393+6C>G | NP_000410.2:n.1393+6C>G | |
| NM_000419.5:c.1393+6C>G MANE Select | NP_000410.2:n.1393+6C>G |