Linked Data
dbSNP Id:
rs758111803
ExAC:
5:13708469 A / C
gnomAD v2:
5-13708469-A-C
gnomAD v3:
5-13708360-A-C
gnomAD v4:
5-13708360-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13708360A>C , CM000667.2:g.13708360A>C | GRCh38 |
| NC_000005.9:g.13708469A>C , CM000667.1:g.13708469A>C | GRCh37 |
| NC_000005.8:g.13761469A>C | NCBI36 |
| NG_013081.1:g.241121T>G | |
| NG_013081.2:g.241121T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683611.1:n.459-25T>G | ||
| ENST00000265104.5:c.13126-25T>G MANE Select | ENSP00000265104.4:n.13126-25T>G | |
| ENST00000681290.1:c.13081-25T>G | ENSP00000505288.1:n.13081-25T>G | |
| ENST00000265104.4:c.13126-25T>G | ENSP00000265104.4:n.13126-25T>G | |
| NM_001369.2:c.13126-25T>G | NP_001360.1:n.13126-25T>G | |
| XM_005248262.2:c.13081-25T>G | XP_005248319.1:n.13081-25T>G | |
| XM_005248262.3:c.13234-25T>G | XP_005248319.2:n.13234-25T>G | |
| XM_017009177.1:c.12814-25T>G | XP_016864666.1:n.12814-25T>G | |
| XM_017009178.1:c.12139-25T>G | XP_016864667.1:n.12139-25T>G | |
| XM_017009179.2:c.12139-25T>G | XP_016864668.1:n.12139-25T>G | |
| XM_017009185.1:c.8323-25T>G | XP_016864674.1:n.8323-25T>G | |
| XM_017009186.1:c.7876-25T>G | XP_016864675.1:n.7876-25T>G | |
| XM_017009188.1:c.7213-25T>G | XP_016864677.1:n.7213-25T>G | |
| XM_024454388.1:c.12139-25T>G | XP_024310156.1:n.12139-25T>G | |
| XM_024454389.1:c.11728-25T>G | XP_024310157.1:n.11728-25T>G | |
| NM_001369.3:c.13126-25T>G MANE Select | NP_001360.1:n.13126-25T>G |