Linked Data
ClinVar Variation Id:
289095
dbSNP Id:
rs375132134
ExAC:
7:16348139 C / T
gnomAD v2:
7-16348139-C-T
gnomAD v3:
7-16308514-C-T
gnomAD v4:
7-16308514-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.16308514C>T , CM000669.2:g.16308514C>T | GRCh38 |
| NC_000007.13:g.16348139C>T , CM000669.1:g.16348139C>T | GRCh37 |
| NC_000007.12:g.16314664C>T | NCBI36 |
| NG_032690.1:g.117809G>A | |
| NG_032690.2:g.117809G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407010.7:c.789+9G>A MANE Select | ENSP00000385478.2:n.789+9G>A | |
| ENST00000674759.1:c.486+9G>A | ENSP00000502749.1:n.486+9G>A | |
| ENST00000675257.1:c.382-7048G>A | ENSP00000501664.1:n.382-7048G>A | |
| ENST00000676325.1:c.486+9G>A | ENSP00000502074.1:n.486+9G>A | |
| ENST00000399310.3:c.639+9G>A | ENSP00000382249.3:n.639+9G>A | |
| ENST00000407010.6:c.789+9G>A | ENSP00000385478.2:n.789+9G>A | |
| NM_001101417.3:c.639+9G>A | NP_001094887.1:n.639+9G>A | |
| NM_001101426.3:c.789+9G>A | NP_001094896.1:n.789+9G>A | |
| XM_006715770.2:c.540+9G>A | XP_006715833.1:n.540+9G>A | |
| XM_011515497.1:c.789+9G>A | XP_011513799.1:n.789+9G>A | |
| XM_011515498.1:c.789+9G>A | XP_011513800.1:n.789+9G>A | |
| XM_011515499.1:c.789+9G>A | XP_011513801.1:n.789+9G>A | |
| XM_011515500.1:c.685-7048G>A | XP_011513802.1:n.685-7048G>A | |
| XM_011515501.1:c.789+9G>A | XP_011513803.1:n.789+9G>A | |
| XM_011515502.1:c.486+9G>A | XP_011513804.1:n.486+9G>A | |
| XM_011515503.1:c.486+9G>A | XP_011513805.1:n.486+9G>A | |
| XM_011515504.1:c.486+9G>A | XP_011513806.1:n.486+9G>A | |
| XM_011515505.1:c.486+9G>A | XP_011513807.1:n.486+9G>A | |
| XM_011515506.1:c.486+9G>A | XP_011513808.1:n.486+9G>A | |
| XM_011515507.1:c.486+9G>A | XP_011513809.1:n.486+9G>A | |
| XM_011515508.1:c.486+9G>A | XP_011513810.1:n.486+9G>A | |
| XM_011515509.1:c.486+9G>A | XP_011513811.1:n.486+9G>A | |
| XM_011515511.1:c.685-30288G>A | XP_011513813.1:n.685-30288G>A | |
| XM_006715770.3:c.540+9G>A | XP_006715833.1:n.540+9G>A | |
| XM_011515499.2:c.789+9G>A | XP_011513801.1:n.789+9G>A | |
| XM_011515500.2:c.685-7048G>A | XP_011513802.1:n.685-7048G>A | |
| XM_011515501.2:c.789+9G>A | XP_011513803.1:n.789+9G>A | |
| XM_011515508.2:c.486+9G>A | XP_011513810.1:n.486+9G>A | |
| XM_011515509.2:c.486+9G>A | XP_011513811.1:n.486+9G>A | |
| XM_017012575.1:c.789+9G>A | XP_016868064.1:n.789+9G>A | |
| XM_017012576.1:c.789+9G>A | XP_016868065.1:n.789+9G>A | |
| XM_017012577.1:c.153+9G>A | XP_016868066.1:n.153+9G>A | |
| XM_017012578.1:c.153+9G>A | XP_016868067.1:n.153+9G>A | |
| XM_024446909.1:c.486+9G>A | XP_024302677.1:n.486+9G>A | |
| XM_024446910.1:c.486+9G>A | XP_024302678.1:n.486+9G>A | |
| XM_024446911.1:c.382-7048G>A | XP_024302679.1:n.382-7048G>A | |
| XM_024446912.1:c.540+9G>A | XP_024302680.1:n.540+9G>A | |
| XR_001744864.1:n.940+9G>A | ||
| XR_001744865.1:n.948+9G>A | ||
| XR_001744866.1:n.1030+9G>A | ||
| XR_001744867.1:n.1034+9G>A | ||
| XR_001744868.1:n.844-30288G>A | ||
| NM_001101426.4:c.789+9G>A MANE Select | NP_001094896.1:n.789+9G>A | |
| NM_001101417.4:c.639+9G>A | NP_001094887.1:n.639+9G>A | |
| NM_001368197.1:c.685-7048G>A | NP_001355126.1:n.685-7048G>A | |
| NR_160656.1:n.901-30288G>A |