Linked Data
ClinVar Variation Id:
267320
dbSNP Id:
rs34936594
ExAC:
16:50733566 C / G
gnomAD v2:
16-50733566-C-G
gnomAD v3:
16-50699655-C-G
gnomAD v4:
16-50699655-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.50699655C>G , CM000678.2:g.50699655C>G | GRCh38 |
| NC_000016.9:g.50733566C>G , CM000678.1:g.50733566C>G | GRCh37 |
| NC_000016.8:g.49291067C>G | NCBI36 |
| NG_007508.1:g.7517C>G , LRG_177:g.7517C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000641284.2:c.160C>G | ENSP00000493088.1:p.Leu54Val | |
| ENST00000646677.2:c.160C>G | ENSP00000496533.1:p.Leu54Val | |
| ENST00000641284.1:c.160C>G | ENSP00000493088.1:p.Leu54Val | |
| ENST00000646677.1:c.160C>G | ENSP00000496533.1:p.Leu54Val | |
| ENST00000647318.2:c.160C>G MANE Select | ENSP00000495993.1:p.Leu54Val | |
| ENST00000300589.6:c.241C>G | ENSP00000300589.2:p.Leu81Val | |
| ENST00000526417.6:n.228C>G | ||
| ENST00000527070.5:c.*856C>G | ENSP00000435149.1:n.*856C>G | |
| ENST00000531674.1:c.160C>G | ENSP00000431681.1:p.Leu54Val | |
| ENST00000532206.1:n.345C>G | ||
| NM_001293557.1:c.160C>G | NP_001280486.1:p.Leu54Val | |
| NM_022162.2:c.241C>G | NP_071445.1:p.Leu81Val | |
| XM_005256084.2:c.160C>G | XP_005256141.1:p.Leu54Val | |
| XM_006721242.2:c.160C>G | XP_006721305.1:p.Leu54Val | |
| XM_006721243.2:c.160C>G | XP_006721306.1:p.Leu54Val | |
| XM_011523258.1:c.-38+5993C>G | XP_011521560.1:n.-38+5993C>G | |
| XM_011523259.1:c.-320C>G | XP_011521561.1:n.-320C>G | |
| XM_011523260.1:c.160C>G | XP_011521562.1:p.Leu54Val | |
| XM_011523261.1:c.160C>G | XP_011521563.1:p.Leu54Val | |
| XR_429725.2:n.250C>G | ||
| XR_429726.2:n.250C>G | ||
| XR_933387.1:n.250C>G | ||
| XM_005256084.4:c.160C>G | XP_005256141.1:p.Leu54Val | |
| XM_006721242.4:c.160C>G | XP_006721305.1:p.Leu54Val | |
| XM_006721243.4:c.160C>G | XP_006721306.1:p.Leu54Val | |
| XM_011523259.2:c.-320C>G | XP_011521561.1:n.-320C>G | |
| XM_011523260.3:c.160C>G | XP_011521562.1:p.Leu54Val | |
| XM_011523261.2:c.160C>G | XP_011521563.1:p.Leu54Val | |
| XM_017023536.1:c.-127+5993C>G | XP_016879025.1:n.-127+5993C>G | |
| XM_017023537.1:c.-21+5993C>G | XP_016879026.1:n.-21+5993C>G | |
| XR_429725.3:n.203C>G | ||
| XR_429726.3:n.203C>G | ||
| XR_933387.2:n.203C>G | ||
| NM_001293557.2:c.160C>G | NP_001280486.1:p.Leu54Val | |
| NM_001370466.1:c.160C>G MANE Select | NP_001357395.1:p.Leu54Val | |
| NM_022162.3:c.241C>G | NP_071445.1:p.Leu81Val | |
| NR_163434.1:n.225C>G |