Linked Data
ClinVar Variation Id:
314954
ClinVar RCV Id:
RCV000325942
dbSNP Id:
rs758437737
ExAC:
14:92471491 A / G
gnomAD v2:
14-92471491-A-G
gnomAD v3:
14-92005147-A-G
gnomAD v4:
14-92005147-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92005147A>G , CM000676.2:g.92005147A>G | GRCh38 |
| NC_000014.8:g.92471491A>G , CM000676.1:g.92471491A>G | GRCh37 |
| NC_000014.7:g.91541244A>G | NCBI36 |
| NG_016970.1:g.39913T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.2829T>C MANE Select | ENSP00000267622.4:p.Phe943= | |
| ENST00000554357.5:c.1975T>C | ||
| NM_004239.3:c.2829T>C | NP_004230.2:p.Phe943= | |
| XM_005268214.2:c.1503T>C | XP_005268271.1:p.Phe501= | |
| XM_005268215.2:c.1527+2493T>C | XP_005268272.1:n.1527+2493T>C | |
| XM_006720321.2:c.2826T>C | XP_006720384.1:p.Phe942= | |
| XM_011537361.1:c.2829T>C | XP_011535663.1:p.Phe943= | |
| XR_943560.1:n.3284T>C | ||
| NM_001321851.1:c.2826T>C | NP_001308780.1:p.Phe942= | |
| NM_004239.4:c.2829T>C MANE Select | NP_004230.2:p.Phe943= | |
| XM_017021787.2:c.2124T>C | XP_016877276.1:p.Phe708= | |
| XM_017021788.2:c.1503T>C | XP_016877277.1:p.Phe501= | |
| XR_001750598.2:n.3278T>C | ||
| XR_943560.2:n.3278T>C |