Linked Data
ClinVar Variation Id:
538504
dbSNP Id:
rs200979623
ExAC:
12:1005373 C / T
gnomAD v2:
12-1005373-C-T
gnomAD v3:
12-896207-C-T
gnomAD v4:
12-896207-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.896207C>T , CM000674.2:g.896207C>T | GRCh38 |
| NC_000012.11:g.1005373C>T , CM000674.1:g.1005373C>T | GRCh37 |
| NC_000012.10:g.875634C>T | NCBI36 |
| NG_007984.2:g.148149C>T | |
| NG_007984.3:g.148149C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315939.11:c.5720C>T MANE Select | ENSP00000313059.6:p.Pro1907Leu | |
| ENST00000340908.9:c.6476C>T MANE Plus Clinical | ENSP00000341292.5:p.Pro2159Leu | |
| ENST00000675631.1:c.4499C>T | ENSP00000502415.1:p.Pro1500Leu | |
| ENST00000676347.1:c.3167C>T | ENSP00000501875.1:p.Pro1056Leu | |
| ENST00000315939.10:c.5720C>T | ENSP00000313059.6:p.Pro1907Leu | |
| ENST00000340908.8:c.6476C>T | ENSP00000341292.5:p.Pro2159Leu | |
| ENST00000530271.6:c.6959C>T | ENSP00000433548.3:p.Pro2320Leu | |
| ENST00000535572.5:c.4976C>T | ENSP00000441972.1:p.Pro1659Leu | |
| ENST00000537687.5:c.6500C>T | ENSP00000444465.1:p.Pro2167Leu | |
| NM_001184985.1:c.6500C>T | NP_001171914.1:p.Pro2167Leu | |
| NM_014823.2:c.4976C>T | NP_055638.2:p.Pro1659Leu | |
| NM_018979.3:c.5720C>T | NP_061852.3:p.Pro1907Leu | |
| NM_213655.4:c.6476C>T | NP_998820.3:p.Pro2159Leu | |
| XM_006719003.1:c.5717C>T | XP_006719066.1:p.Pro1906Leu | |
| XM_011520997.1:c.6959C>T | XP_011519299.1:p.Pro2320Leu | |
| XM_011520998.1:c.6956C>T | XP_011519300.1:p.Pro2319Leu | |
| XM_011520999.1:c.6956C>T | XP_011519301.1:p.Pro2319Leu | |
| XM_011521000.1:c.6959C>T | XP_011519302.1:p.Pro2320Leu | |
| XM_011521001.1:c.6680C>T | XP_011519303.1:p.Pro2227Leu | |
| XM_011521002.1:c.6497C>T | XP_011519304.1:p.Pro2166Leu | |
| XM_011521003.1:c.6221C>T | XP_011519305.1:p.Pro2074Leu | |
| XM_011521004.1:c.6218C>T | XP_011519306.1:p.Pro2073Leu | |
| XM_011521005.1:c.5738C>T | XP_011519307.1:p.Pro1913Leu | |
| XM_011521006.1:c.5636C>T | XP_011519308.1:p.Pro1879Leu | |
| XM_011521007.1:c.5633C>T | XP_011519309.1:p.Pro1878Leu | |
| XM_011521008.1:c.4898C>T | XP_011519310.1:p.Pro1633Leu | |
| XM_011521009.1:c.4895C>T | XP_011519311.1:p.Pro1632Leu | |
| XM_006719003.2:c.5717C>T | XP_006719066.1:p.Pro1906Leu | |
| XM_011520997.3:c.6959C>T | XP_011519299.1:p.Pro2320Leu | |
| XM_011520998.2:c.6956C>T | XP_011519300.1:p.Pro2319Leu | |
| XM_011520999.2:c.6956C>T | XP_011519301.1:p.Pro2319Leu | |
| XM_011521000.2:c.6959C>T | XP_011519302.1:p.Pro2320Leu | |
| XM_011521001.2:c.6680C>T | XP_011519303.1:p.Pro2227Leu | |
| XM_011521002.2:c.6497C>T | XP_011519304.1:p.Pro2166Leu | |
| XM_011521003.2:c.6221C>T | XP_011519305.1:p.Pro2074Leu | |
| XM_011521004.2:c.6218C>T | XP_011519306.1:p.Pro2073Leu | |
| XM_011521005.2:c.5738C>T | XP_011519307.1:p.Pro1913Leu | |
| XM_011521006.2:c.5636C>T | XP_011519308.1:p.Pro1879Leu | |
| XM_011521007.2:c.5633C>T | XP_011519309.1:p.Pro1878Leu | |
| XM_011521008.2:c.4898C>T | XP_011519310.1:p.Pro1633Leu | |
| XM_011521009.2:c.4895C>T | XP_011519311.1:p.Pro1632Leu | |
| XM_017019834.1:c.5258C>T | XP_016875323.1:p.Pro1753Leu | |
| XM_017019835.1:c.5177C>T | XP_016875324.1:p.Pro1726Leu | |
| XM_017019836.1:c.5174C>T | XP_016875325.1:p.Pro1725Leu | |
| XM_017019837.1:c.4982C>T | XP_016875326.1:p.Pro1661Leu | |
| XM_017019838.1:c.4979C>T | XP_016875327.1:p.Pro1660Leu | |
| XM_017019839.1:c.4898C>T | XP_016875328.1:p.Pro1633Leu | |
| NM_018979.4:c.5720C>T MANE Select | NP_061852.3:p.Pro1907Leu | |
| NM_014823.3:c.4976C>T | NP_055638.2:p.Pro1659Leu | |
| NM_001184985.2:c.6500C>T | NP_001171914.1:p.Pro2167Leu | |
| NM_213655.5:c.6476C>T MANE Plus Clinical | NP_998820.3:p.Pro2159Leu |