Linked Data
ClinVar Variation Id:
337232
ClinVar RCV Id:
RCV000295998
dbSNP Id:
rs13406935
gnomAD v2:
2-85776008-A-T
gnomAD v3:
2-85548885-A-T
gnomAD v4:
2-85548885-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85548885A>T , CM000664.2:g.85548885A>T | GRCh38 |
| NC_000002.11:g.85776008A>T , CM000664.1:g.85776008A>T | GRCh37 |
| NC_000002.10:g.85629519A>T | NCBI36 |
| NG_011811.2:g.17650T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000687995.1:n.3678T>A | ||
| ENST00000233838.9:c.*1049T>A MANE Select | ENSP00000233838.3:n.*1049T>A | |
| ENST00000233838.8:c.*1049T>A | ENSP00000233838.3:n.*1049T>A | |
| ENST00000465637.5:n.179-881T>A | ||
| NM_000821.5:c.*1049T>A | NP_000812.2:n.*1049T>A | |
| NM_000821.6:c.*1049T>A | NP_000812.2:n.*1049T>A | |
| NM_001142269.2:c.*1049T>A | NP_001135741.1:n.*1049T>A | |
| NM_001142269.3:c.*1049T>A | NP_001135741.1:n.*1049T>A | |
| NM_000821.7:c.*1049T>A MANE Select | NP_000812.2:n.*1049T>A | |
| NM_001142269.4:c.*1049T>A | NP_001135741.1:n.*1049T>A |