Linked Data
ClinVar Variation Id:
195296
dbSNP Id:
rs201649896
ExAC:
7:114066616 A / T
gnomAD v2:
7-114066616-A-T
gnomAD v3:
7-114426561-A-T
gnomAD v4:
7-114426561-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.114426561A>T , CM000669.2:g.114426561A>T | GRCh38 |
| NC_000007.13:g.114066616A>T , CM000669.1:g.114066616A>T | GRCh37 |
| NC_000007.12:g.113853852A>T | NCBI36 |
| NG_007491.2:g.345252A>T | |
| NG_007491.3:g.345252A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000403559.9:c.50A>T | ENSP00000385069.4:p.Gln17Leu | |
| ENST00000703612.1:c.50A>T | ENSP00000515396.1:p.Gln17Leu | |
| ENST00000703613.1:c.50A>T | ENSP00000515397.1:p.Gln17Leu | |
| ENST00000703614.1:c.50A>T | ENSP00000515398.1:p.Gln17Leu | |
| ENST00000703615.1:c.50A>T | ENSP00000515399.1:p.Gln17Leu | |
| ENST00000703616.1:c.50A>T | ENSP00000515400.1:p.Gln17Leu | |
| ENST00000350908.9:c.50A>T MANE Select | ENSP00000265436.7:p.Gln17Leu | |
| ENST00000393489.8:c.50A>T | ENSP00000377129.4:p.Gln17Leu | |
| ENST00000350908.8:c.50A>T | ENSP00000265436.7:p.Gln17Leu | |
| ENST00000360232.8:c.50A>T | ENSP00000353367.4:p.Gln17Leu | |
| ENST00000378237.7:c.50A>T | ENSP00000367482.3:p.Gln17Leu | |
| ENST00000390668.3:c.47A>T | ENSP00000375084.3:p.Gln16Leu | |
| ENST00000393489.7:c.-285A>T | ENSP00000377129.3:n.-285A>T | |
| ENST00000393491.7:c.-227A>T | ENSP00000377130.3:n.-227A>T | |
| ENST00000393494.6:c.50A>T | ENSP00000377132.2:p.Gln17Leu | |
| ENST00000393495.7:c.50A>T | ENSP00000377133.3:p.Gln17Leu | |
| ENST00000393498.6:c.50A>T | ENSP00000377135.2:p.Gln17Leu | |
| ENST00000403559.8:c.50A>T | ENSP00000385069.4:p.Gln17Leu | |
| ENST00000408937.7:c.50A>T | ENSP00000386200.3:p.Gln17Leu | |
| ENST00000412402.5:c.50A>T | ENSP00000405470.1:p.Gln17Leu | |
| ENST00000440349.5:c.50A>T | ENSP00000395552.1:p.Gln17Leu | |
| ENST00000441290.6:c.50A>T | ENSP00000416825.1:p.Gln17Leu | |
| ENST00000452963.6:c.50A>T | ENSP00000409826.2:p.Gln17Leu | |
| ENST00000459666.5:n.201A>T | ||
| ENST00000462331.5:c.50A>T | ENSP00000418100.1:p.Gln17Leu | |
| ENST00000634411.1:c.50A>T | ENSP00000489135.1:p.Gln17Leu | |
| ENST00000634623.1:c.50A>T | ENSP00000488944.1:p.Gln17Leu | |
| ENST00000635109.1:c.50A>T | ENSP00000489457.1:p.Gln17Leu | |
| ENST00000635534.1:c.50A>T | ENSP00000489229.1:p.Gln17Leu | |
| ENST00000635638.1:c.50A>T | ENSP00000489073.1:p.Gln17Leu | |
| NM_001172766.2:c.50A>T | NP_001166237.1:p.Gln17Leu | |
| NM_001172767.2:c.50A>T | NP_001166238.1:p.Gln17Leu | |
| NM_014491.3:c.50A>T | NP_055306.1:p.Gln17Leu | |
| NM_148898.3:c.50A>T | NP_683696.2:p.Gln17Leu | |
| NM_148899.3:c.50A>T | NP_683697.2:p.Gln17Leu | |
| NM_148900.3:c.50A>T | NP_683698.2:p.Gln17Leu | |
| NR_033766.1:n.453A>T | ||
| NR_033767.1:n.424A>T | ||
| XM_011516706.1:c.50A>T | XP_011515008.1:p.Gln17Leu | |
| XM_017012801.2:c.50A>T | XP_016868290.1:p.Gln17Leu | |
| NM_014491.4:c.50A>T MANE Select | NP_055306.1:p.Gln17Leu | |
| NM_001172766.3:c.50A>T | NP_001166237.1:p.Gln17Leu | |
| NM_148898.4:c.50A>T | NP_683696.2:p.Gln17Leu | |
| NR_033766.2:n.436A>T | ||
| NR_033767.2:n.606A>T | ||
| NM_148900.4:c.50A>T | NP_683698.2:p.Gln17Leu |