Linked Data
ClinVar Variation Id:
314961
ClinVar RCV Id:
RCV000380572
dbSNP Id:
rs201394520
ExAC:
14:92471963 T / G
gnomAD v2:
14-92471963-T-G
gnomAD v3:
14-92005619-T-G
gnomAD v4:
14-92005619-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92005619T>G , CM000676.2:g.92005619T>G | GRCh38 |
| NC_000014.8:g.92471963T>G , CM000676.1:g.92471963T>G | GRCh37 |
| NC_000014.7:g.91541716T>G | NCBI36 |
| NG_016970.1:g.39441A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.2357A>C MANE Select | ENSP00000267622.4:p.Asp786Ala | |
| ENST00000554357.5:c.1503A>C | ||
| NM_004239.3:c.2357A>C | NP_004230.2:p.Asp786Ala | |
| XM_005268214.2:c.1031A>C | XP_005268271.1:p.Asp344Ala | |
| XM_005268215.2:c.1527+2021A>C | XP_005268272.1:n.1527+2021A>C | |
| XM_006720321.2:c.2354A>C | XP_006720384.1:p.Asp785Ala | |
| XM_011537361.1:c.2357A>C | XP_011535663.1:p.Asp786Ala | |
| XR_943560.1:n.2812A>C | ||
| NM_001321851.1:c.2354A>C | NP_001308780.1:p.Asp785Ala | |
| NM_004239.4:c.2357A>C MANE Select | NP_004230.2:p.Asp786Ala | |
| XM_017021787.2:c.1652A>C | XP_016877276.1:p.Asp551Ala | |
| XM_017021788.2:c.1031A>C | XP_016877277.1:p.Asp344Ala | |
| XR_001750598.2:n.2806A>C | ||
| XR_943560.2:n.2806A>C |