Linked Data
ClinVar Variation Id:
188195
dbSNP Id:
rs756046682
ExAC:
17:15142922 A / C
gnomAD v2:
17-15142922-A-C
gnomAD v3:
17-15239605-A-C
gnomAD v4:
17-15239605-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15239605A>C , CM000679.2:g.15239605A>C | GRCh38 |
| NC_000017.10:g.15142922A>C , CM000679.1:g.15142922A>C | GRCh37 |
| NC_000017.9:g.15083647A>C | NCBI36 |
| NG_007949.1:g.30723T>G , LRG_263:g.30723T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000312280.9:c.185T>G MANE Select | ENSP00000308937.3:p.Leu62Arg | |
| ENST00000395936.7:c.185T>G | ENSP00000379268.1:p.Leu62Arg | |
| ENST00000395938.7:c.179-5T>G | ENSP00000379269.3:n.179-5T>G | |
| ENST00000426385.4:c.185T>G | ENSP00000409824.3:p.Leu62Arg | |
| ENST00000494511.7:c.-20T>G | ENSP00000462782.2:n.-20T>G | |
| ENST00000580584.3:c.-20T>G | ENSP00000464468.3:n.-20T>G | |
| ENST00000612492.5:c.185T>G | ENSP00000484631.1:p.Leu62Arg | |
| ENST00000643451.2:c.185T>G | ENSP00000494628.1:p.Leu62Arg | |
| ENST00000644020.1:c.185T>G | ENSP00000496522.1:p.Leu62Arg | |
| ENST00000646419.2:c.185T>G | ENSP00000494871.1:p.Leu62Arg | |
| ENST00000674651.1:c.185T>G | ENSP00000501727.1:p.Leu62Arg | |
| ENST00000674673.1:c.185T>G | ENSP00000501804.1:p.Leu62Arg | |
| ENST00000674707.1:c.-20T>G | ENSP00000502250.1:n.-20T>G | |
| ENST00000674868.1:c.185T>G | ENSP00000502835.1:p.Leu62Arg | |
| ENST00000674871.1:n.201T>G | ||
| ENST00000674947.1:c.179-5T>G | ENSP00000501580.1:n.179-5T>G | |
| ENST00000675197.1:n.165T>G | ||
| ENST00000675350.1:c.185T>G | ENSP00000501557.1:p.Leu62Arg | |
| ENST00000675551.1:c.185T>G | ENSP00000501945.1:p.Leu62Arg | |
| ENST00000675808.1:c.185T>G | ENSP00000502310.1:p.Leu62Arg | |
| ENST00000675819.1:c.185T>G | ENSP00000502018.1:p.Leu62Arg | |
| ENST00000675854.1:c.-20T>G | ENSP00000502324.1:n.-20T>G | |
| ENST00000675950.1:c.185T>G | ENSP00000501546.1:p.Leu62Arg | |
| ENST00000676161.1:c.179-8525T>G | ENSP00000501766.1:n.179-8525T>G | |
| ENST00000676221.1:c.185T>G | ENSP00000502601.1:p.Leu62Arg | |
| ENST00000676329.1:c.287T>G | ENSP00000501698.1:p.Leu96Arg | |
| ENST00000312280.7:c.185T>G | ENSP00000308937.3:p.Leu62Arg | |
| ENST00000395936.5:c.185T>G | ENSP00000379268.1:p.Leu62Arg | |
| ENST00000395938.6:c.185T>G | ENSP00000379269.2:p.Leu62Arg | |
| ENST00000426385.3:c.185T>G | ENSP00000409824.3:p.Leu62Arg | |
| ENST00000494511.5:c.6T>G | ENSP00000462782.1:p.Ala2= | |
| ENST00000580584.1:c.6T>G | ENSP00000464468.1:p.Ala2= | |
| ENST00000612492.4:c.185T>G | ENSP00000484631.1:p.Leu62Arg | |
| NM_000304.3:c.185T>G | NP_000295.1:p.Leu62Arg | |
| NM_001281455.1:c.185T>G | NP_001268384.1:p.Leu62Arg | |
| NM_001281456.1:c.185T>G | NP_001268385.1:p.Leu62Arg | |
| NM_153321.2:c.185T>G | NP_696996.1:p.Leu62Arg | |
| NM_153322.2:c.185T>G | NP_696997.1:p.Leu62Arg | |
| NR_104017.1:n.311T>G | ||
| NR_104018.1:n.211T>G | ||
| XM_011523943.1:c.185T>G | XP_011522245.1:p.Leu62Arg | |
| NM_001330143.1:c.185T>G | NP_001317072.1:p.Leu62Arg | |
| XM_024450806.1:c.185T>G | XP_024306574.1:p.Leu62Arg | |
| NM_000304.4:c.185T>G MANE Select | NP_000295.1:p.Leu62Arg | |
| NM_001281456.2:c.185T>G | NP_001268385.1:p.Leu62Arg | |
| NM_001330143.2:c.185T>G | NP_001317072.1:p.Leu62Arg | |
| NM_153321.3:c.185T>G | NP_696996.1:p.Leu62Arg | |
| NM_153322.3:c.185T>G | NP_696997.1:p.Leu62Arg | |
| NR_104017.2:n.280T>G | ||
| NR_104018.2:n.180T>G | ||
| NM_001281455.2:c.185T>G | NP_001268384.1:p.Leu62Arg |