Linked Data
ClinVar Variation Id:
188294
dbSNP Id:
rs754813237
ExAC:
7:100230644 C / A
gnomAD v2:
7-100230644-C-A
gnomAD v3:
7-100633021-C-A
gnomAD v4:
7-100633021-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100633021C>A , CM000669.2:g.100633021C>A | GRCh38 |
| NC_000007.13:g.100230644C>A , CM000669.1:g.100230644C>A | GRCh37 |
| NC_000007.12:g.100068580C>A | NCBI36 |
| NG_007989.1:g.13530G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000223051.8:c.829G>T MANE Select | ENSP00000223051.3:p.Val277Leu | |
| ENST00000223051.7:c.829G>T | ENSP00000223051.3:p.Val277Leu | |
| ENST00000431692.5:c.829G>T | ENSP00000413905.1:p.Val277Leu | |
| ENST00000462090.5:n.70G>T | ||
| ENST00000462107.1:c.829G>T | ENSP00000420525.1:p.Val277Leu | |
| ENST00000465294.5:n.834G>T | ||
| ENST00000473374.5:n.279G>T | ||
| ENST00000473571.1:n.283G>T | ||
| ENST00000475011.1:n.358G>T | ||
| ENST00000476304.5:n.450G>T | ||
| ENST00000490084.5:c.84G>T | ||
| NM_001206855.1:c.316G>T | NP_001193784.1:p.Val106Leu | |
| NM_003227.3:c.829G>T | NP_003218.2:p.Val277Leu | |
| XM_005250553.3:c.829G>T | XP_005250610.1:p.Val277Leu | |
| XM_005250554.3:c.829G>T | XP_005250611.1:p.Val277Leu | |
| NM_001206855.2:c.316G>T | NP_001193784.1:p.Val106Leu | |
| XM_005250553.4:c.829G>T | XP_005250610.1:p.Val277Leu | |
| XM_017012573.1:c.829G>T | XP_016868062.1:p.Val277Leu | |
| NM_003227.4:c.829G>T MANE Select | NP_003218.2:p.Val277Leu | |
| NM_001206855.3:c.316G>T | NP_001193784.1:p.Val106Leu |