Linked Data
ClinVar Variation Id:
2931461
ClinVar RCV Id:
RCV003785163
dbSNP Id:
rs1293109605
gnomAD v2:
14-77744802-T-C
gnomAD v4:
14-77278459-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77278459T>C , CM000676.2:g.77278459T>C | GRCh38 |
| NC_000014.8:g.77744802T>C , CM000676.1:g.77744802T>C | GRCh37 |
| NC_000014.7:g.76814555T>C | NCBI36 |
| NG_008897.1:g.47424A>G , LRG_844:g.47424A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.1007A>G | ||
| ENST00000556394.2:c.1623A>G | ENSP00000451967.2:p.Ser541= | |
| ENST00000682247.1:c.2071A>G | ENSP00000507213.1:p.Met691Val | |
| ENST00000682395.1:n.2546A>G | ||
| ENST00000682459.1:n.1785A>G | ||
| ENST00000682467.1:c.1941A>G | ENSP00000508062.1:p.Ser647= | |
| ENST00000682795.1:c.2229A>G | ENSP00000507574.1:p.Ser743= | |
| ENST00000682895.1:n.1798A>G | ||
| ENST00000682955.1:n.1656A>G | ||
| ENST00000683188.1:c.2343A>G | ||
| ENST00000683380.1:n.1746A>G | ||
| ENST00000683907.1:c.347A>G | ENSP00000507754.1:n.347A>G | |
| ENST00000684259.1:n.3849A>G | ||
| ENST00000684538.1:n.1461A>G | ||
| ENST00000684549.1:n.1633A>G | ||
| ENST00000261534.9:c.2082A>G MANE Select | ENSP00000261534.4:p.Ser694= | |
| ENST00000261534.8:c.2082A>G | ENSP00000261534.4:p.Ser694= | |
| ENST00000452340.7:n.3058A>G | ||
| ENST00000554767.5:n.2868A>G | ||
| ENST00000555710.1:c.443A>G | ENSP00000451730.1:n.443A>G | |
| ENST00000556394.1:c.137A>G | ||
| ENST00000556446.1:n.383A>G | ||
| ENST00000602717.5:c.297A>G | ENSP00000487704.1:p.Ser99= | |
| NM_013382.5:c.2082A>G , LRG_844t1:c.2082A>G | NP_037514.2:p.Ser694= | |
| XM_011536675.1:c.2271A>G | XP_011534977.1:p.Ser757= | |
| XM_011536676.1:c.1938A>G | XP_011534978.1:p.Ser646= | |
| XM_011536677.1:c.1812A>G | XP_011534979.1:p.Ser604= | |
| XM_011536679.1:c.1365A>G | XP_011534981.1:p.Ser455= | |
| XR_943416.1:n.2335A>G | ||
| XM_011536675.2:c.2271A>G | XP_011534977.1:p.Ser757= | |
| XM_011536676.2:c.1938A>G | XP_011534978.1:p.Ser646= | |
| XM_011536677.3:c.1812A>G | XP_011534979.1:p.Ser604= | |
| XR_001750279.1:n.2368A>G | ||
| XR_001750282.1:n.3021A>G | ||
| XR_943416.3:n.2333A>G | ||
| NM_013382.6:c.2082A>G | NP_037514.2:p.Ser694= | |
| NM_013382.7:c.2082A>G MANE Select | NP_037514.2:p.Ser694= |