Linked Data
ClinVar Variation Id:
291498
dbSNP Id:
rs558548172
ExAC:
1:103352594 T / G
gnomAD v2:
1-103352594-T-G
gnomAD v3:
1-102887038-T-G
gnomAD v4:
1-102887038-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.102887038T>G , CM000663.2:g.102887038T>G | GRCh38 |
| NC_000001.10:g.103352594T>G , CM000663.1:g.103352594T>G | GRCh37 |
| NC_000001.9:g.103125182T>G | NCBI36 |
| NG_008033.1:g.226459A>C | |
| NG_008033.2:g.226459A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370096.9:c.4627A>C MANE Select | ENSP00000359114.3:p.Ile1543Leu | |
| ENST00000353414.8:c.4510A>C | ENSP00000302551.6:p.Ile1504Leu | |
| ENST00000358392.6:c.4663A>C | ENSP00000351163.2:p.Ile1555Leu | |
| ENST00000370096.7:c.4627A>C | ENSP00000359114.3:p.Ile1543Leu | |
| ENST00000512756.5:c.4279A>C | ENSP00000426533.1:p.Ile1427Leu | |
| ENST00000635193.1:c.3961A>C | ||
| NM_001190709.1:c.4510A>C | NP_001177638.1:p.Ile1504Leu | |
| NM_001854.3:c.4627A>C | NP_001845.3:p.Ile1543Leu | |
| NM_080629.2:c.4663A>C | NP_542196.2:p.Ile1555Leu | |
| NM_080630.3:c.4279A>C | NP_542197.3:p.Ile1427Leu | |
| XM_011540720.1:c.2860A>C | XP_011539022.1:p.Ile954Leu | |
| XM_011540721.1:c.2215A>C | XP_011539023.1:p.Ile739Leu | |
| NR_134980.1:n.4961A>C | ||
| XM_017000334.1:c.4780A>C | XP_016855823.1:p.Ile1594Leu | |
| XM_017000335.1:c.4774A>C | XP_016855824.1:p.Ile1592Leu | |
| XM_017000337.1:c.3178A>C | XP_016855826.1:p.Ile1060Leu | |
| NM_001854.4:c.4627A>C MANE Select | NP_001845.3:p.Ile1543Leu | |
| NM_080630.4:c.4279A>C | NP_542197.3:p.Ile1427Leu | |
| NR_134980.2:n.4987A>C | ||
| NM_001190709.2:c.4510A>C | NP_001177638.1:p.Ile1504Leu | |
| NM_080629.3:c.4663A>C | NP_542196.2:p.Ile1555Leu |