Linked Data
ClinVar Variation Id:
1303355
ClinVar RCV Id:
RCV001757910
dbSNP Id:
rs988002138
gnomAD v2:
11-17409553-C-T
gnomAD v3:
11-17388006-C-T
gnomAD v4:
11-17388006-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17388006C>T , CM000673.2:g.17388006C>T | GRCh38 |
| NC_000011.9:g.17409553C>T , CM000673.1:g.17409553C>T | GRCh37 |
| NC_000011.8:g.17366129C>T | NCBI36 |
| NG_012446.1:g.5654G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000528992.2:c.-143G>A | ENSP00000436479.2:n.-143G>A | |
| ENST00000682350.1:c.-16-160G>A | ENSP00000508090.1:n.-16-160G>A | |
| ENST00000682764.1:c.-16-160G>A | ENSP00000506780.1:n.-16-160G>A | |
| ENST00000339994.5:c.86G>A MANE Select | ENSP00000345708.4:p.Arg29His | |
| ENST00000339994.4:c.86G>A | ENSP00000345708.4:p.Arg29His | |
| ENST00000526912.1:c.-17+12G>A | ENSP00000432729.1:n.-17+12G>A | |
| ENST00000528731.1:c.-16-160G>A | ENSP00000434755.1:n.-16-160G>A | |
| ENST00000528992.1:c.103G>A | ||
| NM_000525.3:c.86G>A | NP_000516.3:p.Arg29His | |
| NM_001166290.1:c.-16-160G>A | NP_001159762.1:n.-16-160G>A | |
| XM_006718226.2:c.-16-160G>A | XP_006718289.1:n.-16-160G>A | |
| XR_930867.1:n.244G>A | ||
| XM_006718226.3:c.-16-160G>A | XP_006718289.1:n.-16-160G>A | |
| XM_017017680.1:c.-16-160G>A | XP_016873169.1:n.-16-160G>A | |
| NM_001166290.2:c.-16-160G>A | NP_001159762.1:n.-16-160G>A | |
| NM_001377296.1:c.-17+12G>A | NP_001364225.1:n.-17+12G>A | |
| NM_001377297.1:c.-16-160G>A | NP_001364226.1:n.-16-160G>A | |
| NM_000525.4:c.86G>A MANE Select | NP_000516.3:p.Arg29His |