Linked Data
ClinVar Variation Id:
2274762
ClinVar RCV Id:
RCV004126481
dbSNP Id:
rs775801890
ExAC:
17:56659082 T / C
gnomAD v2:
17-56659082-T-C
gnomAD v3:
17-58581721-T-C
gnomAD v4:
17-58581721-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58581721T>C , CM000679.2:g.58581721T>C | GRCh38 |
| NC_000017.10:g.56659082T>C , CM000679.1:g.56659082T>C | GRCh37 |
| NC_000017.9:g.54014081T>C | NCBI36 |
| NG_047169.1:g.115359A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349033.10:c.3172-1990A>G MANE Select | ENSP00000268910.8:n.3172-1990A>G | |
| ENST00000240361.12:c.3199A>G | ENSP00000240361.8:p.Met1067Val | |
| ENST00000349033.9:c.3172-1990A>G | ENSP00000268910.8:n.3172-1990A>G | |
| ENST00000389934.7:c.3181A>G | ENSP00000374584.3:p.Met1061Val | |
| ENST00000582740.1:c.*3010-1990A>G | ENSP00000463593.1:n.*3010-1990A>G | |
| NM_001201457.1:c.3199A>G | NP_001188386.1:p.Met1067Val | |
| NM_031272.4:c.3172-1990A>G | NP_112562.3:n.3172-1990A>G | |
| NM_198393.3:c.3181A>G | NP_938207.2:p.Met1061Val | |
| XM_011525028.1:c.3304A>G | XP_011523330.1:p.Met1102Val | |
| XM_011525029.1:c.3304A>G | XP_011523331.1:p.Met1102Val | |
| XM_011525030.1:c.3304A>G | XP_011523332.1:p.Met1102Val | |
| XM_011525031.1:c.3304A>G | XP_011523333.1:p.Met1102Val | |
| XM_011525032.1:c.3067A>G | XP_011523334.1:p.Met1023Val | |
| XM_011525033.1:c.2005A>G | XP_011523335.1:p.Met669Val | |
| XM_011525029.3:c.3304A>G | XP_011523331.1:p.Met1102Val | |
| XM_017024861.1:c.2005A>G | XP_016880350.1:p.Met669Val | |
| NM_001201457.2:c.3199A>G | NP_001188386.1:p.Met1067Val | |
| NM_031272.5:c.3172-1990A>G MANE Select | NP_112562.3:n.3172-1990A>G | |
| NM_198393.4:c.3181A>G | NP_938207.2:p.Met1061Val |