Linked Data
ClinVar Variation Id:
314979
ClinVar RCV Id:
RCV000320601
dbSNP Id:
rs138904373
ExAC:
14:92499554 A / G
gnomAD v2:
14-92499554-A-G
gnomAD v3:
14-92033210-A-G
gnomAD v4:
14-92033210-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92033210A>G , CM000676.2:g.92033210A>G | GRCh38 |
| NC_000014.8:g.92499554A>G , CM000676.1:g.92499554A>G | GRCh37 |
| NC_000014.7:g.91569307A>G | NCBI36 |
| NG_016970.1:g.11850T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.183T>C MANE Select | ENSP00000267622.4:p.His61= | |
| ENST00000555105.1:n.515T>C | ||
| ENST00000555516.6:c.-301T>C | ENSP00000451944.1:n.-301T>C | |
| NM_004239.3:c.183T>C | NP_004230.2:p.His61= | |
| XM_005268215.2:c.183T>C | XP_005268272.1:p.His61= | |
| XM_006720321.2:c.180T>C | XP_006720384.1:p.His60= | |
| XM_011537361.1:c.183T>C | XP_011535663.1:p.His61= | |
| XR_943560.1:n.638T>C | ||
| NM_001321851.1:c.180T>C | NP_001308780.1:p.His60= | |
| NM_004239.4:c.183T>C MANE Select | NP_004230.2:p.His61= | |
| XM_017021787.2:c.-564T>C | XP_016877276.1:n.-564T>C | |
| XM_017021788.2:c.-1016T>C | XP_016877277.1:n.-1016T>C | |
| XR_001750598.2:n.632T>C | ||
| XR_943560.2:n.632T>C |