Linked Data
ClinVar Variation Id:
257982
dbSNP Id:
rs779715252
ExAC:
5:13735439 T / C
gnomAD v2:
5-13735439-T-C
gnomAD v3:
5-13735330-T-C
gnomAD v4:
5-13735330-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13735330T>C , CM000667.2:g.13735330T>C | GRCh38 |
| NC_000005.9:g.13735439T>C , CM000667.1:g.13735439T>C | GRCh37 |
| NC_000005.8:g.13788439T>C | NCBI36 |
| NG_013081.1:g.214151A>G | |
| NG_013081.2:g.214151A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.11571-9A>G MANE Select | ENSP00000265104.4:n.11571-9A>G | |
| ENST00000681290.1:c.11526-9A>G | ENSP00000505288.1:n.11526-9A>G | |
| ENST00000265104.4:c.11571-9A>G | ENSP00000265104.4:n.11571-9A>G | |
| NM_001369.2:c.11571-9A>G | NP_001360.1:n.11571-9A>G | |
| XM_005248262.2:c.11526-9A>G | XP_005248319.1:n.11526-9A>G | |
| XM_005248262.3:c.11679-9A>G | XP_005248319.2:n.11679-9A>G | |
| XM_017009177.1:c.11679-9A>G | XP_016864666.1:n.11679-9A>G | |
| XM_017009178.1:c.10584-9A>G | XP_016864667.1:n.10584-9A>G | |
| XM_017009179.2:c.10584-9A>G | XP_016864668.1:n.10584-9A>G | |
| XM_017009180.1:c.11679-9A>G | XP_016864669.1:n.11679-9A>G | |
| XM_017009181.1:c.11679-9A>G | XP_016864670.1:n.11679-9A>G | |
| XM_017009182.1:c.*5-9A>G | XP_016864671.1:n.*5-9A>G | |
| XM_017009185.1:c.6768-9A>G | XP_016864674.1:n.6768-9A>G | |
| XM_017009186.1:c.6321-9A>G | XP_016864675.1:n.6321-9A>G | |
| XM_017009188.1:c.5658-9A>G | XP_016864677.1:n.5658-9A>G | |
| XM_024454388.1:c.10584-9A>G | XP_024310156.1:n.10584-9A>G | |
| XM_024454389.1:c.10173-9A>G | XP_024310157.1:n.10173-9A>G | |
| NM_001369.3:c.11571-9A>G MANE Select | NP_001360.1:n.11571-9A>G |