Linked Data
ClinVar Variation Id:
41503
ClinVar RCV Id:
RCV000034385
RCV000130655
RCV000148371
RCV000204291
RCV000235094
RCV003407396
RCV003996153
RCV003534315
dbSNP Id:
rs201004111
ExAC:
5:112174770 C / A
gnomAD v2:
5-112174770-C-A
gnomAD v3:
5-112839073-C-A
gnomAD v4:
5-112839073-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112839073C>A , CM000667.2:g.112839073C>A | GRCh38 |
| NC_000005.9:g.112174770C>A , CM000667.1:g.112174770C>A | GRCh37 |
| NC_000005.8:g.112202669C>A | NCBI36 |
| NG_008481.4:g.151553C>A , LRG_130:g.151553C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502371.3:c.3144C>A | ENSP00000484935.2:n.3144C>A | |
| ENST00000504915.3:c.3533C>A | ENSP00000473355.2:p.Thr1178Lys | |
| ENST00000505350.2:c.*3485C>A | ENSP00000481752.1:n.*3485C>A | |
| ENST00000507379.6:c.3425C>A | ENSP00000423224.2:p.Thr1142Lys | |
| ENST00000509732.6:c.3479C>A | ENSP00000426541.2:p.Thr1160Lys | |
| ENST00000512211.7:c.3479C>A | ENSP00000423828.3:p.Thr1160Lys | |
| ENST00000257430.9:c.3479C>A MANE Select | ENSP00000257430.4:p.Thr1160Lys | |
| ENST00000257430.8:c.3479C>A | ENSP00000257430.4:p.Thr1160Lys | |
| ENST00000502371.2:c.1832C>A | ||
| ENST00000508376.6:c.3479C>A | ENSP00000427089.2:p.Thr1160Lys | |
| ENST00000508624.5:c.*2801C>A | ENSP00000424265.1:n.*2801C>A | |
| ENST00000512211.6:c.3479C>A | ENSP00000423828.2:p.Thr1160Lys | |
| ENST00000520401.1:c.230+10101C>A | ||
| NM_000038.5:c.3479C>A | NP_000029.2:p.Thr1160Lys | |
| NM_001127510.2:c.3479C>A | NP_001120982.1:p.Thr1160Lys | |
| NM_001127511.2:c.3425C>A | NP_001120983.2:p.Thr1142Lys | |
| NM_001354895.1:c.3479C>A | NP_001341824.1:p.Thr1160Lys | |
| NM_001354896.1:c.3533C>A | NP_001341825.1:p.Thr1178Lys | |
| NM_001354897.1:c.3509C>A | NP_001341826.1:p.Thr1170Lys | |
| NM_001354898.1:c.3404C>A | NP_001341827.1:p.Thr1135Lys | |
| NM_001354899.1:c.3395C>A | NP_001341828.1:p.Thr1132Lys | |
| NM_001354900.1:c.3356C>A | NP_001341829.1:p.Thr1119Lys | |
| NM_001354901.1:c.3302C>A | NP_001341830.1:p.Thr1101Lys | |
| NM_001354902.1:c.3206C>A | NP_001341831.1:p.Thr1069Lys | |
| NM_001354903.1:c.3176C>A | NP_001341832.1:p.Thr1059Lys | |
| NM_001354904.1:c.3101C>A | NP_001341833.1:p.Thr1034Lys | |
| NM_001354905.1:c.2999C>A | NP_001341834.1:p.Thr1000Lys | |
| NM_001354906.1:c.2630C>A | NP_001341835.1:p.Thr877Lys | |
| NM_000038.6:c.3479C>A MANE Select | NP_000029.2:p.Thr1160Lys | |
| NM_001127510.3:c.3479C>A | NP_001120982.1:p.Thr1160Lys | |
| NM_001127511.3:c.3425C>A | NP_001120983.2:p.Thr1142Lys | |
| NM_001354895.2:c.3479C>A | NP_001341824.1:p.Thr1160Lys | |
| NM_001354896.2:c.3533C>A | NP_001341825.1:p.Thr1178Lys | |
| NM_001354897.2:c.3509C>A | NP_001341826.1:p.Thr1170Lys | |
| NM_001354898.2:c.3404C>A | NP_001341827.1:p.Thr1135Lys | |
| NM_001354899.2:c.3395C>A | NP_001341828.1:p.Thr1132Lys | |
| NM_001354900.2:c.3356C>A | NP_001341829.1:p.Thr1119Lys | |
| NM_001354901.2:c.3302C>A | NP_001341830.1:p.Thr1101Lys | |
| NM_001354902.2:c.3206C>A | NP_001341831.1:p.Thr1069Lys | |
| NM_001354903.2:c.3176C>A | NP_001341832.1:p.Thr1059Lys | |
| NM_001354904.2:c.3101C>A | NP_001341833.1:p.Thr1034Lys | |
| NM_001354905.2:c.2999C>A | NP_001341834.1:p.Thr1000Lys | |
| NM_001354906.2:c.2630C>A | NP_001341835.1:p.Thr877Lys |