Linked Data
ClinVar Variation Id:
181801
dbSNP Id:
rs201550951
ExAC:
5:112174706 A / C
gnomAD v2:
5-112174706-A-C
gnomAD v3:
5-112839009-A-C
gnomAD v4:
5-112839009-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839009A>C , CM000667.2:g.112839009A>C | GRCh38 |
| NC_000005.9:g.112174706A>C , CM000667.1:g.112174706A>C | GRCh37 |
| NC_000005.8:g.112202605A>C | NCBI36 |
| NG_008481.4:g.151489A>C , LRG_130:g.151489A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3080A>C | ENSP00000484935.2:n.3080A>C | |
| ENST00000504915.3:c.3469A>C | ENSP00000473355.2:p.Lys1157Gln | |
| ENST00000505350.2:c.*3421A>C | ENSP00000481752.1:n.*3421A>C | |
| ENST00000507379.6:c.3361A>C | ENSP00000423224.2:p.Lys1121Gln | |
| ENST00000509732.6:c.3415A>C | ENSP00000426541.2:p.Lys1139Gln | |
| ENST00000512211.7:c.3415A>C | ENSP00000423828.3:p.Lys1139Gln | |
| ENST00000257430.9:c.3415A>C MANE Select | ENSP00000257430.4:p.Lys1139Gln | |
| ENST00000257430.8:c.3415A>C | ENSP00000257430.4:p.Lys1139Gln | |
| ENST00000502371.2:c.1768A>C | ||
| ENST00000507379.5:c.3361A>C | ENSP00000423224.1:p.Lys1121Gln | |
| ENST00000508376.6:c.3415A>C | ENSP00000427089.2:p.Lys1139Gln | |
| ENST00000508624.5:c.*2737A>C | ENSP00000424265.1:n.*2737A>C | |
| ENST00000512211.6:c.3415A>C | ENSP00000423828.2:p.Lys1139Gln | |
| ENST00000520401.1:c.230+10037A>C | ||
| NM_000038.5:c.3415A>C | NP_000029.2:p.Lys1139Gln | |
| NM_001127510.2:c.3415A>C | NP_001120982.1:p.Lys1139Gln | |
| NM_001127511.2:c.3361A>C | NP_001120983.2:p.Lys1121Gln | |
| NM_001354895.1:c.3415A>C | NP_001341824.1:p.Lys1139Gln | |
| NM_001354896.1:c.3469A>C | NP_001341825.1:p.Lys1157Gln | |
| NM_001354897.1:c.3445A>C | NP_001341826.1:p.Lys1149Gln | |
| NM_001354898.1:c.3340A>C | NP_001341827.1:p.Lys1114Gln | |
| NM_001354899.1:c.3331A>C | NP_001341828.1:p.Lys1111Gln | |
| NM_001354900.1:c.3292A>C | NP_001341829.1:p.Lys1098Gln | |
| NM_001354901.1:c.3238A>C | NP_001341830.1:p.Lys1080Gln | |
| NM_001354902.1:c.3142A>C | NP_001341831.1:p.Lys1048Gln | |
| NM_001354903.1:c.3112A>C | NP_001341832.1:p.Lys1038Gln | |
| NM_001354904.1:c.3037A>C | NP_001341833.1:p.Lys1013Gln | |
| NM_001354905.1:c.2935A>C | NP_001341834.1:p.Lys979Gln | |
| NM_001354906.1:c.2566A>C | NP_001341835.1:p.Lys856Gln | |
| NM_000038.6:c.3415A>C MANE Select | NP_000029.2:p.Lys1139Gln | |
| NM_001127510.3:c.3415A>C | NP_001120982.1:p.Lys1139Gln | |
| NM_001127511.3:c.3361A>C | NP_001120983.2:p.Lys1121Gln | |
| NM_001354895.2:c.3415A>C | NP_001341824.1:p.Lys1139Gln | |
| NM_001354896.2:c.3469A>C | NP_001341825.1:p.Lys1157Gln | |
| NM_001354897.2:c.3445A>C | NP_001341826.1:p.Lys1149Gln | |
| NM_001354898.2:c.3340A>C | NP_001341827.1:p.Lys1114Gln | |
| NM_001354899.2:c.3331A>C | NP_001341828.1:p.Lys1111Gln | |
| NM_001354900.2:c.3292A>C | NP_001341829.1:p.Lys1098Gln | |
| NM_001354901.2:c.3238A>C | NP_001341830.1:p.Lys1080Gln | |
| NM_001354902.2:c.3142A>C | NP_001341831.1:p.Lys1048Gln | |
| NM_001354903.2:c.3112A>C | NP_001341832.1:p.Lys1038Gln | |
| NM_001354904.2:c.3037A>C | NP_001341833.1:p.Lys1013Gln | |
| NM_001354905.2:c.2935A>C | NP_001341834.1:p.Lys979Gln | |
| NM_001354906.2:c.2566A>C | NP_001341835.1:p.Lys856Gln |