Linked Data
ClinVar Variation Id:
195834
dbSNP Id:
rs201995891
ExAC:
12:1005387 A / C
gnomAD v2:
12-1005387-A-C
gnomAD v3:
12-896221-A-C
gnomAD v4:
12-896221-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.896221A>C , CM000674.2:g.896221A>C | GRCh38 |
| NC_000012.11:g.1005387A>C , CM000674.1:g.1005387A>C | GRCh37 |
| NC_000012.10:g.875648A>C | NCBI36 |
| NG_007984.2:g.148163A>C | |
| NG_007984.3:g.148163A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315939.11:c.5734A>C MANE Select | ENSP00000313059.6:p.Ile1912Leu | |
| ENST00000340908.9:c.6490A>C MANE Plus Clinical | ENSP00000341292.5:p.Ile2164Leu | |
| ENST00000675631.1:c.4513A>C | ENSP00000502415.1:p.Ile1505Leu | |
| ENST00000676347.1:c.3181A>C | ENSP00000501875.1:p.Ile1061Leu | |
| ENST00000315939.10:c.5734A>C | ENSP00000313059.6:p.Ile1912Leu | |
| ENST00000340908.8:c.6490A>C | ENSP00000341292.5:p.Ile2164Leu | |
| ENST00000530271.6:c.6973A>C | ENSP00000433548.3:p.Ile2325Leu | |
| ENST00000535572.5:c.4990A>C | ENSP00000441972.1:p.Ile1664Leu | |
| ENST00000537687.5:c.6514A>C | ENSP00000444465.1:p.Ile2172Leu | |
| NM_001184985.1:c.6514A>C | NP_001171914.1:p.Ile2172Leu | |
| NM_014823.2:c.4990A>C | NP_055638.2:p.Ile1664Leu | |
| NM_018979.3:c.5734A>C | NP_061852.3:p.Ile1912Leu | |
| NM_213655.4:c.6490A>C | NP_998820.3:p.Ile2164Leu | |
| XM_006719003.1:c.5731A>C | XP_006719066.1:p.Ile1911Leu | |
| XM_011520997.1:c.6973A>C | XP_011519299.1:p.Ile2325Leu | |
| XM_011520998.1:c.6970A>C | XP_011519300.1:p.Ile2324Leu | |
| XM_011520999.1:c.6970A>C | XP_011519301.1:p.Ile2324Leu | |
| XM_011521000.1:c.6973A>C | XP_011519302.1:p.Ile2325Leu | |
| XM_011521001.1:c.6694A>C | XP_011519303.1:p.Ile2232Leu | |
| XM_011521002.1:c.6511A>C | XP_011519304.1:p.Ile2171Leu | |
| XM_011521003.1:c.6235A>C | XP_011519305.1:p.Ile2079Leu | |
| XM_011521004.1:c.6232A>C | XP_011519306.1:p.Ile2078Leu | |
| XM_011521005.1:c.5752A>C | XP_011519307.1:p.Ile1918Leu | |
| XM_011521006.1:c.5650A>C | XP_011519308.1:p.Ile1884Leu | |
| XM_011521007.1:c.5647A>C | XP_011519309.1:p.Ile1883Leu | |
| XM_011521008.1:c.4912A>C | XP_011519310.1:p.Ile1638Leu | |
| XM_011521009.1:c.4909A>C | XP_011519311.1:p.Ile1637Leu | |
| XM_006719003.2:c.5731A>C | XP_006719066.1:p.Ile1911Leu | |
| XM_011520997.3:c.6973A>C | XP_011519299.1:p.Ile2325Leu | |
| XM_011520998.2:c.6970A>C | XP_011519300.1:p.Ile2324Leu | |
| XM_011520999.2:c.6970A>C | XP_011519301.1:p.Ile2324Leu | |
| XM_011521000.2:c.6973A>C | XP_011519302.1:p.Ile2325Leu | |
| XM_011521001.2:c.6694A>C | XP_011519303.1:p.Ile2232Leu | |
| XM_011521002.2:c.6511A>C | XP_011519304.1:p.Ile2171Leu | |
| XM_011521003.2:c.6235A>C | XP_011519305.1:p.Ile2079Leu | |
| XM_011521004.2:c.6232A>C | XP_011519306.1:p.Ile2078Leu | |
| XM_011521005.2:c.5752A>C | XP_011519307.1:p.Ile1918Leu | |
| XM_011521006.2:c.5650A>C | XP_011519308.1:p.Ile1884Leu | |
| XM_011521007.2:c.5647A>C | XP_011519309.1:p.Ile1883Leu | |
| XM_011521008.2:c.4912A>C | XP_011519310.1:p.Ile1638Leu | |
| XM_011521009.2:c.4909A>C | XP_011519311.1:p.Ile1637Leu | |
| XM_017019834.1:c.5272A>C | XP_016875323.1:p.Ile1758Leu | |
| XM_017019835.1:c.5191A>C | XP_016875324.1:p.Ile1731Leu | |
| XM_017019836.1:c.5188A>C | XP_016875325.1:p.Ile1730Leu | |
| XM_017019837.1:c.4996A>C | XP_016875326.1:p.Ile1666Leu | |
| XM_017019838.1:c.4993A>C | XP_016875327.1:p.Ile1665Leu | |
| XM_017019839.1:c.4912A>C | XP_016875328.1:p.Ile1638Leu | |
| NM_018979.4:c.5734A>C MANE Select | NP_061852.3:p.Ile1912Leu | |
| NM_014823.3:c.4990A>C | NP_055638.2:p.Ile1664Leu | |
| NM_001184985.2:c.6514A>C | NP_001171914.1:p.Ile2172Leu | |
| NM_213655.5:c.6490A>C MANE Plus Clinical | NP_998820.3:p.Ile2164Leu |