Linked Data
ClinVar Variation Id:
260676
dbSNP Id:
rs7212549
ExAC:
17:19246667 A / G
gnomAD v2:
17-19246667-A-G
gnomAD v3:
17-19343354-A-G
gnomAD v4:
17-19343354-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19343354A>G , CM000679.2:g.19343354A>G | GRCh38 |
| NC_000017.10:g.19246667A>G , CM000679.1:g.19246667A>G | GRCh37 |
| NC_000017.9:g.19187260A>G | NCBI36 |
| NG_031885.1:g.39829T>C | |
| NG_031885.2:g.39840T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261499.11:c.580T>C MANE Select | ENSP00000261499.4:p.Leu194= | |
| ENST00000261499.10:c.580T>C | ENSP00000261499.4:p.Leu194= | |
| ENST00000477478.7:c.*356T>C | ENSP00000460939.2:n.*356T>C | |
| ENST00000582857.2:c.112+436T>C | ENSP00000463165.2:n.112+436T>C | |
| ENST00000642870.2:c.220T>C | ENSP00000496409.2:p.Leu74= | |
| ENST00000646248.1:c.407T>C | ENSP00000493599.1:n.407T>C | |
| ENST00000647056.1:c.*86+436T>C | ENSP00000496502.1:n.*86+436T>C | |
| ENST00000647252.1:c.*356T>C | ENSP00000495045.1:n.*356T>C | |
| ENST00000663089.1:c.*356T>C | ENSP00000499469.1:n.*356T>C | |
| ENST00000671102.1:c.535+436T>C | ENSP00000499690.1:n.535+436T>C | |
| ENST00000674596.1:c.297+436T>C | ENSP00000501877.1:n.297+436T>C | |
| ENST00000675510.1:c.404+3915T>C | ENSP00000501817.1:n.404+3915T>C | |
| ENST00000261499.8:c.580T>C | ENSP00000261499.4:p.Leu194= | |
| ENST00000395615.5:c.*128T>C | ENSP00000378977.1:n.*128T>C | |
| ENST00000461069.6:c.472+436T>C | ENSP00000433359.2:n.472+436T>C | |
| ENST00000477478.6:c.*193T>C | ENSP00000460939.1:n.*193T>C | |
| ENST00000575403.5:c.399+436T>C | ENSP00000459857.1:n.399+436T>C | |
| NM_001243473.1:c.*193T>C | NP_001230402.1:n.*193T>C | |
| NM_001243475.1:c.399+436T>C | NP_001230404.1:n.399+436T>C | |
| NM_015681.3:c.580T>C | NP_056496.1:p.Leu194= | |
| XM_005256605.2:c.472+436T>C | XP_005256662.1:n.472+436T>C | |
| XM_005256607.2:c.*128T>C | XP_005256664.1:n.*128T>C | |
| XM_005256608.2:c.404+3915T>C | XP_005256665.1:n.404+3915T>C | |
| XM_011523794.1:c.472+436T>C | XP_011522096.1:n.472+436T>C | |
| NM_001243473.2:c.*193T>C | NP_001230402.1:n.*193T>C | |
| NM_001243475.2:c.399+436T>C | NP_001230404.1:n.399+436T>C | |
| NM_001321214.1:c.*105T>C | NP_001308143.1:n.*105T>C | |
| NM_001321215.1:c.*356T>C | NP_001308144.1:n.*356T>C | |
| NM_001321217.1:c.472+436T>C | NP_001308146.1:n.472+436T>C | |
| NM_001321218.1:c.472+436T>C | NP_001308147.1:n.472+436T>C | |
| NM_001321219.1:c.404+3915T>C | NP_001308148.1:n.404+3915T>C | |
| NM_015681.4:c.580T>C | NP_056496.1:p.Leu194= | |
| NM_001321214.2:c.*105T>C | NP_001308143.1:n.*105T>C | |
| NM_001321215.2:c.*356T>C | NP_001308144.1:n.*356T>C | |
| NM_001321217.2:c.472+436T>C | NP_001308146.1:n.472+436T>C | |
| NM_001321218.2:c.472+436T>C | NP_001308147.1:n.472+436T>C | |
| NM_001321219.2:c.404+3915T>C | NP_001308148.1:n.404+3915T>C | |
| NM_001368769.2:c.112+436T>C | NP_001355698.1:n.112+436T>C | |
| NM_015681.5:c.580T>C | NP_056496.1:p.Leu194= | |
| NM_001321215.3:c.*356T>C | NP_001308144.1:n.*356T>C | |
| NM_015681.6:c.580T>C MANE Select | NP_056496.1:p.Leu194= |