Linked Data
ClinVar Variation Id:
1139938
ClinVar RCV Id:
RCV001476807
dbSNP Id:
rs750009811
ExAC:
5:13776813 G / T
gnomAD v2:
5-13776813-G-T
gnomAD v3:
5-13776704-G-T
gnomAD v4:
5-13776704-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13776704G>T , CM000667.2:g.13776704G>T | GRCh38 |
| NC_000005.9:g.13776813G>T , CM000667.1:g.13776813G>T | GRCh37 |
| NC_000005.8:g.13829813G>T | NCBI36 |
| NG_013081.1:g.172777C>A | |
| NG_013081.2:g.172777C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.9108C>A MANE Select | ENSP00000265104.4:p.Val3036= | |
| ENST00000681290.1:c.9063C>A | ENSP00000505288.1:p.Val3021= | |
| ENST00000265104.4:c.9108C>A | ENSP00000265104.4:p.Val3036= | |
| NM_001369.2:c.9108C>A | NP_001360.1:p.Val3036= | |
| XM_005248262.2:c.9063C>A | XP_005248319.1:p.Val3021= | |
| XM_011513990.1:c.9103C>A | XP_011512292.1:p.Leu3035Ile | |
| XR_925598.1:n.9179C>A | ||
| XM_005248262.3:c.9216C>A | XP_005248319.2:p.Val3072= | |
| XM_017009177.1:c.9216C>A | XP_016864666.1:p.Val3072= | |
| XM_017009178.1:c.8121C>A | XP_016864667.1:p.Val2707= | |
| XM_017009179.2:c.8121C>A | XP_016864668.1:p.Val2707= | |
| XM_017009180.1:c.9216C>A | XP_016864669.1:p.Val3072= | |
| XM_017009181.1:c.9216C>A | XP_016864670.1:p.Val3072= | |
| XM_017009182.1:c.9216C>A | XP_016864671.1:p.Val3072= | |
| XM_017009183.1:c.9216C>A | XP_016864672.1:p.Val3072= | |
| XM_017009184.1:c.9211C>A | XP_016864673.1:p.Leu3071Ile | |
| XM_017009185.1:c.4305C>A | XP_016864674.1:p.Val1435= | |
| XM_017009186.1:c.3858C>A | XP_016864675.1:p.Val1286= | |
| XM_017009188.1:c.3195C>A | XP_016864677.1:p.Val1065= | |
| XM_024454388.1:c.8121C>A | XP_024310156.1:p.Val2707= | |
| XM_024454389.1:c.7710C>A | XP_024310157.1:p.Val2570= | |
| XR_001742034.1:n.9102C>A | ||
| XR_001742035.1:n.9097C>A | ||
| NM_001369.3:c.9108C>A MANE Select | NP_001360.1:p.Val3036= |