Linked Data
ClinVar Variation Id:
3148104
ClinVar RCV Id:
RCV004440006
gnomAD v4:
5-112838981-G-A
MyVariant Identifiers:
chr5:g.112174678G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112838981G>A , CM000667.2:g.112838981G>A | GRCh38 |
| NC_000005.9:g.112174678G>A , CM000667.1:g.112174678G>A | GRCh37 |
| NC_000005.8:g.112202577G>A | NCBI36 |
| NG_008481.4:g.151461G>A , LRG_130:g.151461G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3052G>A | ENSP00000484935.2:n.3052G>A | |
| ENST00000504915.3:c.3441G>A | ENSP00000473355.2:p.Leu1147= | |
| ENST00000505350.2:c.*3393G>A | ENSP00000481752.1:n.*3393G>A | |
| ENST00000507379.6:c.3333G>A | ENSP00000423224.2:p.Leu1111= | |
| ENST00000509732.6:c.3387G>A | ENSP00000426541.2:p.Leu1129= | |
| ENST00000512211.7:c.3387G>A | ENSP00000423828.3:p.Leu1129= | |
| ENST00000257430.9:c.3387G>A MANE Select | ENSP00000257430.4:p.Leu1129= | |
| ENST00000257430.8:c.3387G>A | ENSP00000257430.4:p.Leu1129= | |
| ENST00000502371.2:c.1740G>A | ||
| ENST00000507379.5:c.3333G>A | ENSP00000423224.1:p.Leu1111= | |
| ENST00000508376.6:c.3387G>A | ENSP00000427089.2:p.Leu1129= | |
| ENST00000508624.5:c.*2709G>A | ENSP00000424265.1:n.*2709G>A | |
| ENST00000512211.6:c.3387G>A | ENSP00000423828.2:p.Leu1129= | |
| ENST00000520401.1:c.230+10009G>A | ||
| NM_000038.5:c.3387G>A | NP_000029.2:p.Leu1129= | |
| NM_001127510.2:c.3387G>A | NP_001120982.1:p.Leu1129= | |
| NM_001127511.2:c.3333G>A | NP_001120983.2:p.Leu1111= | |
| NM_001354895.1:c.3387G>A | NP_001341824.1:p.Leu1129= | |
| NM_001354896.1:c.3441G>A | NP_001341825.1:p.Leu1147= | |
| NM_001354897.1:c.3417G>A | NP_001341826.1:p.Leu1139= | |
| NM_001354898.1:c.3312G>A | NP_001341827.1:p.Leu1104= | |
| NM_001354899.1:c.3303G>A | NP_001341828.1:p.Leu1101= | |
| NM_001354900.1:c.3264G>A | NP_001341829.1:p.Leu1088= | |
| NM_001354901.1:c.3210G>A | NP_001341830.1:p.Leu1070= | |
| NM_001354902.1:c.3114G>A | NP_001341831.1:p.Leu1038= | |
| NM_001354903.1:c.3084G>A | NP_001341832.1:p.Leu1028= | |
| NM_001354904.1:c.3009G>A | NP_001341833.1:p.Leu1003= | |
| NM_001354905.1:c.2907G>A | NP_001341834.1:p.Leu969= | |
| NM_001354906.1:c.2538G>A | NP_001341835.1:p.Leu846= | |
| NM_000038.6:c.3387G>A MANE Select | NP_000029.2:p.Leu1129= | |
| NM_001127510.3:c.3387G>A | NP_001120982.1:p.Leu1129= | |
| NM_001127511.3:c.3333G>A | NP_001120983.2:p.Leu1111= | |
| NM_001354895.2:c.3387G>A | NP_001341824.1:p.Leu1129= | |
| NM_001354896.2:c.3441G>A | NP_001341825.1:p.Leu1147= | |
| NM_001354897.2:c.3417G>A | NP_001341826.1:p.Leu1139= | |
| NM_001354898.2:c.3312G>A | NP_001341827.1:p.Leu1104= | |
| NM_001354899.2:c.3303G>A | NP_001341828.1:p.Leu1101= | |
| NM_001354900.2:c.3264G>A | NP_001341829.1:p.Leu1088= | |
| NM_001354901.2:c.3210G>A | NP_001341830.1:p.Leu1070= | |
| NM_001354902.2:c.3114G>A | NP_001341831.1:p.Leu1038= | |
| NM_001354903.2:c.3084G>A | NP_001341832.1:p.Leu1028= | |
| NM_001354904.2:c.3009G>A | NP_001341833.1:p.Leu1003= | |
| NM_001354905.2:c.2907G>A | NP_001341834.1:p.Leu969= | |
| NM_001354906.2:c.2538G>A | NP_001341835.1:p.Leu846= |