Linked Data
ClinVar Variation Id:
508305
ClinVar RCV Id:
RCV000606129
dbSNP Id:
rs537369528
ExAC:
6:5261012 A / G
gnomAD v2:
6-5261012-A-G
gnomAD v3:
6-5260779-A-G
gnomAD v4:
6-5260779-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.5260779A>G , CM000668.2:g.5260779A>G | GRCh38 |
| NC_000006.11:g.5261012A>G , CM000668.1:g.5261012A>G | GRCh37 |
| NC_000006.10:g.5206011A>G | NCBI36 |
| NG_033003.1:g.4429A>G | |
| NG_051651.1:g.5172T>C | |
| NG_033003.2:g.4429A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330636.9:c.-46T>C MANE Select | ENSP00000418787.1:n.-46T>C | |
| ENST00000330636.8:c.-46T>C | ENSP00000418787.1:n.-46T>C | |
| NM_001164840.2:c.-46T>C | NP_001158312.1:n.-46T>C | |
| NM_001164841.2:c.-46T>C | NP_001158313.1:n.-46T>C | |
| NM_020408.5:c.-46T>C | NP_065141.3:n.-46T>C | |
| NR_104417.1:n.172T>C | ||
| NR_104418.1:n.172T>C | ||
| NM_001318782.1:c.-46T>C | NP_001305711.1:n.-46T>C | |
| NM_001318783.1:c.-46T>C | NP_001305712.1:n.-46T>C | |
| NR_134856.1:n.172T>C | ||
| NM_001164840.3:c.-46T>C | NP_001158312.1:n.-46T>C | |
| NM_001164841.3:c.-46T>C | NP_001158313.1:n.-46T>C | |
| NM_020408.6:c.-46T>C MANE Select | NP_065141.3:n.-46T>C | |
| NR_104417.2:n.172T>C |