Linked Data
ClinVar Variation Id:
368679
ClinVar RCV Id:
RCV000283815
dbSNP Id:
rs567910666
gnomAD v3:
X-80669738-C-A
gnomAD v4:
X-80669738-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.80669738C>A , CM000685.2:g.80669738C>A | GRCh38 |
| NC_000023.10:g.79925237C>A , CM000685.1:g.79925237C>A | GRCh37 |
| NC_000023.9:g.79811893C>A | NCBI36 |
| NG_021349.1:g.144997G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373275.5:c.*6871G>T MANE Select | ENSP00000362372.4:n.*6871G>T | |
| NM_153252.4:c.*6871G>T | NP_694984.4:n.*6871G>T | |
| XM_005262113.2:c.*6871G>T | XP_005262170.1:n.*6871G>T | |
| XM_011530903.1:c.*6871G>T | XP_011529205.1:n.*6871G>T | |
| XM_011530904.1:c.*6871G>T | XP_011529206.1:n.*6871G>T | |
| XM_005262113.3:c.*6871G>T | XP_005262170.1:n.*6871G>T | |
| NM_153252.5:c.*6871G>T MANE Select | NP_694984.5:n.*6871G>T |