Linked Data
ClinVar Variation Id:
43724
dbSNP Id:
rs397516509
gnomAD v2:
1-237948218-C-T
gnomAD v3:
1-237784918-C-T
gnomAD v4:
1-237784918-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.237784918C>T , CM000663.2:g.237784918C>T | GRCh38 |
| NC_000001.10:g.237948218C>T , CM000663.1:g.237948218C>T | GRCh37 |
| NC_000001.9:g.236014841C>T | NCBI36 |
| NG_008799.2:g.747517C>T | |
| NG_008799.3:g.747735C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609119.2:c.*4298C>T | ENSP00000499659.2:n.*4298C>T | |
| ENST00000659194.3:c.13194C>T | ENSP00000499653.3:p.Leu4398= | |
| ENST00000660292.2:c.13227C>T | ENSP00000499787.2:p.Leu4409= | |
| ENST00000659194.2:c.5383C>T | ||
| ENST00000366574.7:c.13206C>T MANE Select | ENSP00000355533.2:p.Leu4402= | |
| ENST00000659194.1:c.5383C>T | ||
| ENST00000660292.1:c.3259C>T | ||
| ENST00000360064.7:c.13158C>T | ENSP00000353174.7:p.Leu4386= | |
| ENST00000366574.6:c.13206C>T | ENSP00000355533.2:p.Leu4402= | |
| ENST00000609119.1:n.4401C>T | ||
| NM_001035.2:c.13206C>T | NP_001026.2:p.Leu4402= | |
| XM_006711802.2:c.13260C>T | XP_006711865.1:p.Leu4420= | |
| XM_006711803.2:c.13257C>T | XP_006711866.1:p.Leu4419= | |
| XM_006711804.2:c.13236C>T | XP_006711867.1:p.Leu4412= | |
| XM_006711805.2:c.13230C>T | XP_006711868.1:p.Leu4410= | |
| XM_006711806.2:c.13224C>T | XP_006711869.1:p.Leu4408= | |
| XM_006711807.2:c.13200C>T | XP_006711870.1:p.Leu4400= | |
| XM_006711808.2:c.13023C>T | XP_006711871.1:p.Leu4341= | |
| XM_006711810.2:c.13167C>T | XP_006711873.1:p.Leu4389= | |
| XM_006711802.3:c.13260C>T | XP_006711865.1:p.Leu4420= | |
| XM_006711803.3:c.13257C>T | XP_006711866.1:p.Leu4419= | |
| XM_006711804.3:c.13236C>T | XP_006711867.1:p.Leu4412= | |
| XM_006711805.3:c.13230C>T | XP_006711868.1:p.Leu4410= | |
| XM_006711806.3:c.13224C>T | XP_006711869.1:p.Leu4408= | |
| XM_006711807.3:c.13200C>T | XP_006711870.1:p.Leu4400= | |
| XM_006711808.3:c.13023C>T | XP_006711871.1:p.Leu4341= | |
| XM_006711810.3:c.13167C>T | XP_006711873.1:p.Leu4389= | |
| XM_017002028.1:c.13239C>T | XP_016857517.1:p.Leu4413= | |
| NM_001035.3:c.13206C>T MANE Select | NP_001026.2:p.Leu4402= |