Linked Data
dbSNP Id:
rs568742468
ExAC:
8:32453360 T / C
gnomAD v2:
8-32453360-T-C
gnomAD v3:
8-32595842-T-C
gnomAD v4:
8-32595842-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.32595842T>C , CM000670.2:g.32595842T>C | GRCh38 |
| NC_000008.10:g.32453360T>C , CM000670.1:g.32453360T>C | GRCh37 |
| NC_000008.9:g.32572902T>C | NCBI36 |
| NG_012005.1:g.961093T>C | |
| NG_012005.2:g.961621T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405005.8:c.115T>C MANE Select | ENSP00000384620.2:p.Leu39= | |
| ENST00000519301.6:c.52T>C | ENSP00000429582.1:p.Leu18= | |
| ENST00000650856.1:c.52T>C | ENSP00000498216.1:p.Leu18= | |
| ENST00000650866.1:c.52T>C | ENSP00000499045.1:p.Leu18= | |
| ENST00000650919.1:c.115T>C | ENSP00000498811.1:p.Leu39= | |
| ENST00000650964.1:n.112T>C | ||
| ENST00000650967.1:c.115T>C | ENSP00000498833.1:p.Leu39= | |
| ENST00000650980.1:c.115T>C | ENSP00000498583.1:p.Leu39= | |
| ENST00000651149.1:c.52T>C | ENSP00000498375.1:p.Leu18= | |
| ENST00000651175.1:n.112T>C | ||
| ENST00000651335.1:c.86T>C | ||
| ENST00000651807.1:n.552T>C | ||
| ENST00000652588.1:c.229T>C | ENSP00000498367.1:p.Leu77= | |
| ENST00000652698.1:c.52T>C | ENSP00000499008.1:p.Leu18= | |
| ENST00000287842.7:c.115T>C | ENSP00000287842.4:p.Leu39= | |
| ENST00000356819.7:c.115T>C | ENSP00000349275.6:p.Leu39= | |
| ENST00000405005.7:c.115T>C | ENSP00000384620.2:p.Leu39= | |
| ENST00000518104.5:c.52T>C | ENSP00000430053.1:p.Leu18= | |
| ENST00000519301.5:c.52T>C | ENSP00000429582.1:p.Leu18= | |
| ENST00000520407.5:c.760T>C | ENSP00000434640.1:p.Leu254= | |
| ENST00000521670.5:c.115T>C | ENSP00000428828.1:p.Leu39= | |
| ENST00000523079.5:c.115T>C | ENSP00000430120.1:p.Leu39= | |
| ENST00000523534.5:c.319T>C | ENSP00000429067.1:p.Leu107= | |
| ENST00000631040.2:c.64T>C | ENSP00000486375.1:p.Leu22= | |
| NM_001159995.1:c.52T>C | NP_001153467.1:p.Leu18= | |
| NM_001159999.1:c.52T>C | NP_001153471.1:p.Leu18= | |
| NM_001160001.1:c.52T>C | NP_001153473.1:p.Leu18= | |
| NM_001160002.1:c.115T>C | NP_001153474.1:p.Leu39= | |
| NM_001160004.1:c.115T>C | NP_001153476.1:p.Leu39= | |
| NM_001160005.1:c.115T>C | NP_001153477.1:p.Leu39= | |
| NM_001160007.1:c.115T>C | NP_001153479.1:p.Leu39= | |
| NM_001160008.1:c.115T>C | NP_001153480.1:p.Leu39= | |
| NM_004495.3:c.115T>C | NP_004486.2:p.Leu39= | |
| NM_013956.3:c.115T>C | NP_039250.2:p.Leu39= | |
| NM_013957.3:c.115T>C | NP_039251.2:p.Leu39= | |
| NM_013958.3:c.115T>C | NP_039252.2:p.Leu39= | |
| NM_013960.3:c.115T>C | NP_039254.1:p.Leu39= | |
| NM_013962.2:c.760T>C | NP_039256.2:p.Leu254= | |
| NM_013964.3:c.115T>C | NP_039258.1:p.Leu39= | |
| XM_011544512.1:c.136T>C | XP_011542814.1:p.Leu46= | |
| NM_001159995.2:c.52T>C | NP_001153467.1:p.Leu18= | |
| NM_001159999.2:c.52T>C | NP_001153471.1:p.Leu18= | |
| NM_001160001.2:c.52T>C | NP_001153473.1:p.Leu18= | |
| NM_001160004.2:c.115T>C | NP_001153476.1:p.Leu39= | |
| NM_001322201.1:c.-541T>C | NP_001309130.1:n.-541T>C | |
| NM_001322202.1:c.-490T>C | NP_001309131.1:n.-490T>C | |
| NM_013956.4:c.115T>C | NP_039250.2:p.Leu39= | |
| NM_013957.4:c.115T>C | NP_039251.2:p.Leu39= | |
| NM_013960.4:c.115T>C | NP_039254.1:p.Leu39= | |
| NM_013964.4:c.115T>C | NP_039258.1:p.Leu39= | |
| XM_011544512.2:c.136T>C | XP_011542814.1:p.Leu46= | |
| XM_017013365.2:c.136T>C | XP_016868854.1:p.Leu46= | |
| XM_017013366.2:c.136T>C | XP_016868855.1:p.Leu46= | |
| XM_017013367.1:c.136T>C | XP_016868856.1:p.Leu46= | |
| XM_017013368.2:c.115T>C | XP_016868857.1:p.Leu39= | |
| XM_017013371.2:c.136T>C | XP_016868860.1:p.Leu46= | |
| XM_017013372.2:c.136T>C | XP_016868861.1:p.Leu46= | |
| XM_024447143.1:c.115T>C | XP_024302911.1:p.Leu39= | |
| NM_001159995.3:c.52T>C | NP_001153467.1:p.Leu18= | |
| NM_001159999.3:c.52T>C | NP_001153471.1:p.Leu18= | |
| NM_001160001.3:c.52T>C | NP_001153473.1:p.Leu18= | |
| NM_001160002.2:c.115T>C | NP_001153474.1:p.Leu39= | |
| NM_001160004.3:c.115T>C | NP_001153476.1:p.Leu39= | |
| NM_001160007.2:c.115T>C | NP_001153479.1:p.Leu39= | |
| NM_001160008.2:c.115T>C | NP_001153480.1:p.Leu39= | |
| NM_001322201.2:c.-541T>C | NP_001309130.1:n.-541T>C | |
| NM_001322202.2:c.-490T>C | NP_001309131.1:n.-490T>C | |
| NM_004495.4:c.115T>C | NP_004486.2:p.Leu39= | |
| NM_013956.5:c.115T>C | NP_039250.2:p.Leu39= | |
| NM_013957.5:c.115T>C | NP_039251.2:p.Leu39= | |
| NM_013960.5:c.115T>C | NP_039254.1:p.Leu39= | |
| NM_013964.5:c.115T>C MANE Select | NP_039258.1:p.Leu39= | |
| NM_001160005.2:c.115T>C | NP_001153477.1:p.Leu39= | |
| NM_013958.4:c.115T>C | NP_039252.2:p.Leu39= | |
| NM_013962.3:c.760T>C | NP_039256.2:p.Leu254= |