Linked Data
ClinVar Variation Id:
292854
dbSNP Id:
rs772147085
ExAC:
1:156146608 C / T
gnomAD v2:
1-156146608-C-T
gnomAD v3:
1-156176817-C-T
gnomAD v4:
1-156176817-C-T
COSMIC:
COSM3788814
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156176817C>T , CM000663.2:g.156176817C>T | GRCh38 |
| NC_000001.10:g.156146608C>T , CM000663.1:g.156146608C>T | GRCh37 |
| NC_000001.9:g.154413232C>T | NCBI36 |
| NG_027683.1:g.31874C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368285.8:c.2106C>T MANE Select | ENSP00000357268.3:p.Leu702= | |
| ENST00000355014.6:c.2106C>T | ENSP00000347117.2:p.Leu702= | |
| ENST00000368282.1:c.2106C>T | ENSP00000357265.1:p.Leu702= | |
| ENST00000368284.5:c.1710C>T | ENSP00000357267.1:p.Leu570= | |
| ENST00000368285.7:c.2106C>T | ENSP00000357268.3:p.Leu702= | |
| ENST00000368286.6:c.1992C>T | ENSP00000357269.3:p.Leu664= | |
| NM_001193300.1:c.2106C>T | NP_001180229.1:p.Leu702= | |
| NM_001193301.1:c.2106C>T | NP_001180230.1:p.Leu702= | |
| NM_001193302.1:c.1710C>T | NP_001180231.1:p.Leu570= | |
| NM_022367.3:c.2106C>T | NP_071762.2:p.Leu702= | |
| XM_011509871.1:c.1992C>T | XP_011508173.1:p.Leu664= | |
| XM_011509872.1:c.2106C>T | XP_011508174.1:p.Leu702= | |
| XM_011509873.1:c.2106C>T | XP_011508175.1:p.Leu702= | |
| XM_011509874.1:c.1809C>T | XP_011508176.1:p.Leu603= | |
| XM_011509875.1:c.1809C>T | XP_011508177.1:p.Leu603= | |
| XM_011509876.1:c.1809C>T | XP_011508178.1:p.Leu603= | |
| XM_011509877.1:c.1809C>T | XP_011508179.1:p.Leu603= | |
| XM_011509878.1:c.1809C>T | XP_011508180.1:p.Leu603= | |
| XM_011509879.1:c.1599C>T | XP_011508181.1:p.Leu533= | |
| XM_011509871.3:c.1992C>T | XP_011508173.1:p.Leu664= | |
| XM_011509872.2:c.2106C>T | XP_011508174.1:p.Leu702= | |
| XM_011509873.2:c.2106C>T | XP_011508175.1:p.Leu702= | |
| XM_011509874.2:c.1809C>T | XP_011508176.1:p.Leu603= | |
| XM_011509875.3:c.1809C>T | XP_011508177.1:p.Leu603= | |
| XM_011509876.2:c.1809C>T | XP_011508178.1:p.Leu603= | |
| XM_011509878.2:c.1809C>T | XP_011508180.1:p.Leu603= | |
| XM_011509879.2:c.1599C>T | XP_011508181.1:p.Leu533= | |
| XM_017002056.1:c.2106C>T | XP_016857545.1:p.Leu702= | |
| XM_017002057.1:c.1599C>T | XP_016857546.1:p.Leu533= | |
| NM_022367.4:c.2106C>T MANE Select | NP_071762.2:p.Leu702= | |
| NM_001193300.2:c.2106C>T | NP_001180229.1:p.Leu702= | |
| NM_001370567.1:c.2106C>T | NP_001357496.1:p.Leu702= | |
| NM_001370568.1:c.1809C>T | NP_001357497.1:p.Leu603= | |
| NM_001370569.1:c.1599C>T | NP_001357498.1:p.Leu533= | |
| NM_001370571.1:c.1599C>T | NP_001357500.1:p.Leu533= | |
| NM_001193301.2:c.2106C>T | NP_001180230.1:p.Leu702= | |
| NM_001193302.2:c.1710C>T | NP_001180231.1:p.Leu570= |