Linked Data
ClinVar Variation Id:
290676
dbSNP Id:
rs201334104
ExAC:
7:16341053 A / G
gnomAD v2:
7-16341053-A-G
gnomAD v3:
7-16301428-A-G
gnomAD v4:
7-16301428-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.16301428A>G , CM000669.2:g.16301428A>G | GRCh38 |
| NC_000007.13:g.16341053A>G , CM000669.1:g.16341053A>G | GRCh37 |
| NC_000007.12:g.16307578A>G | NCBI36 |
| NG_032690.1:g.124895T>C | |
| NG_032690.2:g.124895T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407010.7:c.828T>C MANE Select | ENSP00000385478.2:p.Ile276= | |
| ENST00000674759.1:c.525T>C | ENSP00000502749.1:p.Ile175= | |
| ENST00000675257.1:c.420T>C | ENSP00000501664.1:p.Ile140= | |
| ENST00000676325.1:c.525T>C | ENSP00000502074.1:p.Ile175= | |
| ENST00000399310.3:c.678T>C | ENSP00000382249.3:p.Ile226= | |
| ENST00000407010.6:c.828T>C | ENSP00000385478.2:p.Ile276= | |
| ENST00000479493.1:n.39T>C | ||
| NM_001101417.3:c.678T>C | NP_001094887.1:p.Ile226= | |
| NM_001101426.3:c.828T>C | NP_001094896.1:p.Ile276= | |
| XM_006715770.2:c.579T>C | XP_006715833.1:p.Ile193= | |
| XM_011515497.1:c.828T>C | XP_011513799.1:p.Ile276= | |
| XM_011515498.1:c.828T>C | XP_011513800.1:p.Ile276= | |
| XM_011515499.1:c.828T>C | XP_011513801.1:p.Ile276= | |
| XM_011515500.1:c.723T>C | XP_011513802.1:p.Ile241= | |
| XM_011515501.1:c.828T>C | XP_011513803.1:p.Ile276= | |
| XM_011515502.1:c.525T>C | XP_011513804.1:p.Ile175= | |
| XM_011515503.1:c.525T>C | XP_011513805.1:p.Ile175= | |
| XM_011515504.1:c.525T>C | XP_011513806.1:p.Ile175= | |
| XM_011515505.1:c.525T>C | XP_011513807.1:p.Ile175= | |
| XM_011515506.1:c.525T>C | XP_011513808.1:p.Ile175= | |
| XM_011515507.1:c.525T>C | XP_011513809.1:p.Ile175= | |
| XM_011515508.1:c.525T>C | XP_011513810.1:p.Ile175= | |
| XM_011515509.1:c.525T>C | XP_011513811.1:p.Ile175= | |
| XM_011515511.1:c.685-23202T>C | XP_011513813.1:n.685-23202T>C | |
| XM_006715770.3:c.579T>C | XP_006715833.1:p.Ile193= | |
| XM_011515499.2:c.828T>C | XP_011513801.1:p.Ile276= | |
| XM_011515500.2:c.723T>C | XP_011513802.1:p.Ile241= | |
| XM_011515501.2:c.828T>C | XP_011513803.1:p.Ile276= | |
| XM_011515508.2:c.525T>C | XP_011513810.1:p.Ile175= | |
| XM_011515509.2:c.525T>C | XP_011513811.1:p.Ile175= | |
| XM_017012575.1:c.828T>C | XP_016868064.1:p.Ile276= | |
| XM_017012576.1:c.828T>C | XP_016868065.1:p.Ile276= | |
| XM_017012577.1:c.192T>C | XP_016868066.1:p.Ile64= | |
| XM_017012578.1:c.192T>C | XP_016868067.1:p.Ile64= | |
| XM_024446909.1:c.525T>C | XP_024302677.1:p.Ile175= | |
| XM_024446910.1:c.525T>C | XP_024302678.1:p.Ile175= | |
| XM_024446911.1:c.420T>C | XP_024302679.1:p.Ile140= | |
| XM_024446912.1:c.579T>C | XP_024302680.1:p.Ile193= | |
| XR_001744864.1:n.940+7095T>C | ||
| XR_001744865.1:n.948+7095T>C | ||
| XR_001744866.1:n.1069T>C | ||
| XR_001744867.1:n.1034+7095T>C | ||
| XR_001744868.1:n.844-23202T>C | ||
| NM_001101426.4:c.828T>C MANE Select | NP_001094896.1:p.Ile276= | |
| NM_001101417.4:c.678T>C | NP_001094887.1:p.Ile226= | |
| NM_001368197.1:c.723T>C | NP_001355126.1:p.Ile241= | |
| NR_160656.1:n.901-23202T>C |