Linked Data
ClinVar Variation Id:
289744
dbSNP Id:
rs151331381
ExAC:
12:1005803 T / C
gnomAD v2:
12-1005803-T-C
gnomAD v3:
12-896637-T-C
gnomAD v4:
12-896637-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.896637T>C , CM000674.2:g.896637T>C | GRCh38 |
| NC_000012.11:g.1005803T>C , CM000674.1:g.1005803T>C | GRCh37 |
| NC_000012.10:g.876064T>C | NCBI36 |
| NG_007984.2:g.148579T>C | |
| NG_007984.3:g.148579T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315939.11:c.6150T>C MANE Select | ENSP00000313059.6:p.Leu2050= | |
| ENST00000340908.9:c.6906T>C MANE Plus Clinical | ENSP00000341292.5:p.Leu2302= | |
| ENST00000675631.1:c.4929T>C | ENSP00000502415.1:p.Leu1643= | |
| ENST00000676347.1:c.3597T>C | ENSP00000501875.1:p.Leu1199= | |
| ENST00000315939.10:c.6150T>C | ENSP00000313059.6:p.Leu2050= | |
| ENST00000340908.8:c.6906T>C | ENSP00000341292.5:p.Leu2302= | |
| ENST00000530271.6:c.7389T>C | ENSP00000433548.3:p.Leu2463= | |
| ENST00000535572.5:c.5406T>C | ENSP00000441972.1:p.Leu1802= | |
| ENST00000537687.5:c.6930T>C | ENSP00000444465.1:p.Leu2310= | |
| ENST00000542424.1:n.15T>C | ||
| NM_001184985.1:c.6930T>C | NP_001171914.1:p.Leu2310= | |
| NM_014823.2:c.5406T>C | NP_055638.2:p.Leu1802= | |
| NM_018979.3:c.6150T>C | NP_061852.3:p.Leu2050= | |
| NM_213655.4:c.6906T>C | NP_998820.3:p.Leu2302= | |
| XM_006719003.1:c.6147T>C | XP_006719066.1:p.Leu2049= | |
| XM_011520997.1:c.7389T>C | XP_011519299.1:p.Leu2463= | |
| XM_011520998.1:c.7386T>C | XP_011519300.1:p.Leu2462= | |
| XM_011520999.1:c.7386T>C | XP_011519301.1:p.Leu2462= | |
| XM_011521000.1:c.7389T>C | XP_011519302.1:p.Leu2463= | |
| XM_011521001.1:c.7110T>C | XP_011519303.1:p.Leu2370= | |
| XM_011521002.1:c.6927T>C | XP_011519304.1:p.Leu2309= | |
| XM_011521003.1:c.6651T>C | XP_011519305.1:p.Leu2217= | |
| XM_011521004.1:c.6648T>C | XP_011519306.1:p.Leu2216= | |
| XM_011521005.1:c.6168T>C | XP_011519307.1:p.Leu2056= | |
| XM_011521006.1:c.6066T>C | XP_011519308.1:p.Leu2022= | |
| XM_011521007.1:c.6063T>C | XP_011519309.1:p.Leu2021= | |
| XM_011521008.1:c.5328T>C | XP_011519310.1:p.Leu1776= | |
| XM_011521009.1:c.5325T>C | XP_011519311.1:p.Leu1775= | |
| XM_006719003.2:c.6147T>C | XP_006719066.1:p.Leu2049= | |
| XM_011520997.3:c.7389T>C | XP_011519299.1:p.Leu2463= | |
| XM_011520998.2:c.7386T>C | XP_011519300.1:p.Leu2462= | |
| XM_011520999.2:c.7386T>C | XP_011519301.1:p.Leu2462= | |
| XM_011521000.2:c.7389T>C | XP_011519302.1:p.Leu2463= | |
| XM_011521001.2:c.7110T>C | XP_011519303.1:p.Leu2370= | |
| XM_011521002.2:c.6927T>C | XP_011519304.1:p.Leu2309= | |
| XM_011521003.2:c.6651T>C | XP_011519305.1:p.Leu2217= | |
| XM_011521004.2:c.6648T>C | XP_011519306.1:p.Leu2216= | |
| XM_011521005.2:c.6168T>C | XP_011519307.1:p.Leu2056= | |
| XM_011521006.2:c.6066T>C | XP_011519308.1:p.Leu2022= | |
| XM_011521007.2:c.6063T>C | XP_011519309.1:p.Leu2021= | |
| XM_011521008.2:c.5328T>C | XP_011519310.1:p.Leu1776= | |
| XM_011521009.2:c.5325T>C | XP_011519311.1:p.Leu1775= | |
| XM_017019834.1:c.5688T>C | XP_016875323.1:p.Leu1896= | |
| XM_017019835.1:c.5607T>C | XP_016875324.1:p.Leu1869= | |
| XM_017019836.1:c.5604T>C | XP_016875325.1:p.Leu1868= | |
| XM_017019837.1:c.5412T>C | XP_016875326.1:p.Leu1804= | |
| XM_017019838.1:c.5409T>C | XP_016875327.1:p.Leu1803= | |
| XM_017019839.1:c.5328T>C | XP_016875328.1:p.Leu1776= | |
| NM_018979.4:c.6150T>C MANE Select | NP_061852.3:p.Leu2050= | |
| NM_014823.3:c.5406T>C | NP_055638.2:p.Leu1802= | |
| NM_001184985.2:c.6930T>C | NP_001171914.1:p.Leu2310= | |
| NM_213655.5:c.6906T>C MANE Plus Clinical | NP_998820.3:p.Leu2302= |