Linked Data
ClinVar Variation Id:
2371850
ClinVar RCV Id:
RCV004214683
dbSNP Id:
rs148446178
ExAC:
17:56654760 C / T
gnomAD v2:
17-56654760-C-T
gnomAD v3:
17-58577399-C-T
gnomAD v4:
17-58577399-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58577399C>T , CM000679.2:g.58577399C>T | GRCh38 |
| NC_000017.10:g.56654760C>T , CM000679.1:g.56654760C>T | GRCh37 |
| NC_000017.9:g.54009759C>T | NCBI36 |
| NG_047169.1:g.119681G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349033.10:c.3296G>A MANE Select | ENSP00000268910.8:p.Arg1099Lys | |
| ENST00000240361.12:c.3434G>A | ENSP00000240361.8:p.Arg1145Lys | |
| ENST00000349033.9:c.3296G>A | ENSP00000268910.8:p.Arg1099Lys | |
| ENST00000389934.7:c.3416G>A | ENSP00000374584.3:p.Arg1139Lys | |
| ENST00000582740.1:c.*3134G>A | ENSP00000463593.1:n.*3134G>A | |
| NM_001201457.1:c.3434G>A | NP_001188386.1:p.Arg1145Lys | |
| NM_031272.4:c.3296G>A | NP_112562.3:p.Arg1099Lys | |
| NM_198393.3:c.3416G>A | NP_938207.2:p.Arg1139Lys | |
| XM_011525028.1:c.3539G>A | XP_011523330.1:p.Arg1180Lys | |
| XM_011525029.1:c.3539G>A | XP_011523331.1:p.Arg1180Lys | |
| XM_011525030.1:c.3539G>A | XP_011523332.1:p.Arg1180Lys | |
| XM_011525031.1:c.3539G>A | XP_011523333.1:p.Arg1180Lys | |
| XM_011525032.1:c.3302G>A | XP_011523334.1:p.Arg1101Lys | |
| XM_011525033.1:c.2240G>A | XP_011523335.1:p.Arg747Lys | |
| XM_011525029.3:c.3539G>A | XP_011523331.1:p.Arg1180Lys | |
| XM_017024861.1:c.2240G>A | XP_016880350.1:p.Arg747Lys | |
| XR_001752952.1:n.171-1431C>T | ||
| NM_001201457.2:c.3434G>A | NP_001188386.1:p.Arg1145Lys | |
| NM_031272.5:c.3296G>A MANE Select | NP_112562.3:p.Arg1099Lys | |
| NM_198393.4:c.3416G>A | NP_938207.2:p.Arg1139Lys |