Linked Data
ClinVar Variation Id:
298136
ClinVar RCV Id:
RCV000401904
dbSNP Id:
rs142642620
ExAC:
1:92735271 C / T
gnomAD v2:
1-92735271-C-T
gnomAD v3:
1-92269714-C-T
gnomAD v4:
1-92269714-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92269714C>T , CM000663.2:g.92269714C>T | GRCh38 |
| NC_000001.10:g.92735271C>T , CM000663.1:g.92735271C>T | GRCh37 |
| NC_000001.9:g.92507859C>T | NCBI36 |
| NG_009796.1:g.34296G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370360.8:c.977+9G>A MANE Select | ENSP00000359385.3:n.977+9G>A | |
| ENST00000370360.7:c.977+9G>A | ENSP00000359385.3:n.977+9G>A | |
| ENST00000463560.1:c.345+9G>A | ||
| ENST00000495106.5:c.977+9G>A | ENSP00000436829.1:n.977+9G>A | |
| ENST00000495852.6:c.242+9G>A | ENSP00000469157.2:n.242+9G>A | |
| NM_053274.2:c.977+9G>A | NP_444504.1:n.977+9G>A | |
| XM_005270400.1:c.977+9G>A | XP_005270457.1:n.977+9G>A | |
| XM_005270401.2:c.851+9G>A | XP_005270458.1:n.851+9G>A | |
| XM_006710309.1:c.476+9G>A | XP_006710372.1:n.476+9G>A | |
| XM_011540544.1:c.977+9G>A | XP_011538846.1:n.977+9G>A | |
| XM_011540545.1:c.977+9G>A | XP_011538847.1:n.977+9G>A | |
| XM_011540546.1:c.977+9G>A | XP_011538848.1:n.977+9G>A | |
| XR_946529.1:n.1092+9G>A | ||
| NM_001319683.1:c.977+9G>A | NP_001306612.1:n.977+9G>A | |
| NR_135089.1:n.1092+9G>A | ||
| XM_005270401.3:c.851+9G>A | XP_005270458.1:n.851+9G>A | |
| XM_006710309.2:c.476+9G>A | XP_006710372.1:n.476+9G>A | |
| XM_011540546.2:c.977+9G>A | XP_011538848.1:n.977+9G>A | |
| XM_017000137.1:c.1076+9G>A | XP_016855626.1:n.1076+9G>A | |
| XM_017000138.1:c.1076+9G>A | XP_016855627.1:n.1076+9G>A | |
| XM_017000139.1:c.1076+9G>A | XP_016855628.1:n.1076+9G>A | |
| XM_017000140.1:c.950+9G>A | XP_016855629.1:n.950+9G>A | |
| XM_017000141.1:c.977+9G>A | XP_016855630.1:n.977+9G>A | |
| XM_017000142.1:c.476+9G>A | XP_016855631.1:n.476+9G>A | |
| XM_017000143.1:c.476+9G>A | XP_016855632.1:n.476+9G>A | |
| XM_017000144.1:c.206+9G>A | XP_016855633.1:n.206+9G>A | |
| XR_002959248.1:n.1460+9G>A | ||
| XR_002959249.1:n.1092+9G>A | ||
| NM_053274.3:c.977+9G>A MANE Select | NP_444504.1:n.977+9G>A | |
| NM_001319683.2:c.977+9G>A | NP_001306612.1:n.977+9G>A | |
| NR_135089.2:n.1070+9G>A |