Linked Data
ClinVar Variation Id:
942777
ClinVar RCV Id:
RCV002561797
dbSNP Id:
rs876660665
gnomAD v4:
5-112841538-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112841538A>C , CM000667.2:g.112841538A>C | GRCh38 |
| NC_000005.9:g.112177235A>C , CM000667.1:g.112177235A>C | GRCh37 |
| NC_000005.8:g.112205134A>C | NCBI36 |
| NG_008481.4:g.154018A>C , LRG_130:g.154018A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.5998A>C | ENSP00000473355.2:p.Lys2000Gln | |
| ENST00000505350.2:c.*5950A>C | ENSP00000481752.1:n.*5950A>C | |
| ENST00000507379.6:c.5890A>C | ENSP00000423224.2:p.Lys1964Gln | |
| ENST00000509732.6:c.5944A>C | ENSP00000426541.2:p.Lys1982Gln | |
| ENST00000512211.7:c.5944A>C | ENSP00000423828.3:p.Lys1982Gln | |
| ENST00000257430.9:c.5944A>C MANE Select | ENSP00000257430.4:p.Lys1982Gln | |
| ENST00000257430.8:c.5944A>C | ENSP00000257430.4:p.Lys1982Gln | |
| ENST00000508376.6:c.5944A>C | ENSP00000427089.2:p.Lys1982Gln | |
| ENST00000508624.5:c.*5266A>C | ENSP00000424265.1:n.*5266A>C | |
| ENST00000520401.1:c.230+12566A>C | ||
| NM_000038.5:c.5944A>C | NP_000029.2:p.Lys1982Gln | |
| NM_001127510.2:c.5944A>C | NP_001120982.1:p.Lys1982Gln | |
| NM_001127511.2:c.5890A>C | NP_001120983.2:p.Lys1964Gln | |
| NM_001354895.1:c.5944A>C | NP_001341824.1:p.Lys1982Gln | |
| NM_001354896.1:c.5998A>C | NP_001341825.1:p.Lys2000Gln | |
| NM_001354897.1:c.5974A>C | NP_001341826.1:p.Lys1992Gln | |
| NM_001354898.1:c.5869A>C | NP_001341827.1:p.Lys1957Gln | |
| NM_001354899.1:c.5860A>C | NP_001341828.1:p.Lys1954Gln | |
| NM_001354900.1:c.5821A>C | NP_001341829.1:p.Lys1941Gln | |
| NM_001354901.1:c.5767A>C | NP_001341830.1:p.Lys1923Gln | |
| NM_001354902.1:c.5671A>C | NP_001341831.1:p.Lys1891Gln | |
| NM_001354903.1:c.5641A>C | NP_001341832.1:p.Lys1881Gln | |
| NM_001354904.1:c.5566A>C | NP_001341833.1:p.Lys1856Gln | |
| NM_001354905.1:c.5464A>C | NP_001341834.1:p.Lys1822Gln | |
| NM_001354906.1:c.5095A>C | NP_001341835.1:p.Lys1699Gln | |
| NM_000038.6:c.5944A>C MANE Select | NP_000029.2:p.Lys1982Gln | |
| NM_001127510.3:c.5944A>C | NP_001120982.1:p.Lys1982Gln | |
| NM_001127511.3:c.5890A>C | NP_001120983.2:p.Lys1964Gln | |
| NM_001354895.2:c.5944A>C | NP_001341824.1:p.Lys1982Gln | |
| NM_001354896.2:c.5998A>C | NP_001341825.1:p.Lys2000Gln | |
| NM_001354897.2:c.5974A>C | NP_001341826.1:p.Lys1992Gln | |
| NM_001354898.2:c.5869A>C | NP_001341827.1:p.Lys1957Gln | |
| NM_001354899.2:c.5860A>C | NP_001341828.1:p.Lys1954Gln | |
| NM_001354900.2:c.5821A>C | NP_001341829.1:p.Lys1941Gln | |
| NM_001354901.2:c.5767A>C | NP_001341830.1:p.Lys1923Gln | |
| NM_001354902.2:c.5671A>C | NP_001341831.1:p.Lys1891Gln | |
| NM_001354903.2:c.5641A>C | NP_001341832.1:p.Lys1881Gln | |
| NM_001354904.2:c.5566A>C | NP_001341833.1:p.Lys1856Gln | |
| NM_001354905.2:c.5464A>C | NP_001341834.1:p.Lys1822Gln | |
| NM_001354906.2:c.5095A>C | NP_001341835.1:p.Lys1699Gln |