Linked Data
dbSNP Id:
rs751099855
gnomAD v2:
5-13736066-A-C
gnomAD v3:
5-13735957-A-C
gnomAD v4:
5-13735957-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13735957A>C , CM000667.2:g.13735957A>C | GRCh38 |
| NC_000005.9:g.13736066A>C , CM000667.1:g.13736066A>C | GRCh37 |
| NC_000005.8:g.13789066A>C | NCBI36 |
| NG_013081.1:g.213524T>G | |
| NG_013081.2:g.213524T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.11456-25T>G MANE Select | ENSP00000265104.4:n.11456-25T>G | |
| ENST00000681290.1:c.11411-25T>G | ENSP00000505288.1:n.11411-25T>G | |
| ENST00000265104.4:c.11456-25T>G | ENSP00000265104.4:n.11456-25T>G | |
| NM_001369.2:c.11456-25T>G | NP_001360.1:n.11456-25T>G | |
| XM_005248262.2:c.11411-25T>G | XP_005248319.1:n.11411-25T>G | |
| XM_005248262.3:c.11564-25T>G | XP_005248319.2:n.11564-25T>G | |
| XM_017009177.1:c.11564-25T>G | XP_016864666.1:n.11564-25T>G | |
| XM_017009178.1:c.10469-25T>G | XP_016864667.1:n.10469-25T>G | |
| XM_017009179.2:c.10469-25T>G | XP_016864668.1:n.10469-25T>G | |
| XM_017009180.1:c.11564-25T>G | XP_016864669.1:n.11564-25T>G | |
| XM_017009181.1:c.11564-25T>G | XP_016864670.1:n.11564-25T>G | |
| XM_017009182.1:c.11320-25T>G | XP_016864671.1:n.11320-25T>G | |
| XM_017009185.1:c.6653-25T>G | XP_016864674.1:n.6653-25T>G | |
| XM_017009186.1:c.6206-25T>G | XP_016864675.1:n.6206-25T>G | |
| XM_017009188.1:c.5543-25T>G | XP_016864677.1:n.5543-25T>G | |
| XM_024454388.1:c.10469-25T>G | XP_024310156.1:n.10469-25T>G | |
| XM_024454389.1:c.10058-25T>G | XP_024310157.1:n.10058-25T>G | |
| NM_001369.3:c.11456-25T>G MANE Select | NP_001360.1:n.11456-25T>G |