Linked Data
ClinVar Variation Id:
302593
ClinVar RCV Id:
RCV000301089
dbSNP Id:
rs77548426
ExAC:
11:118004957 G / A
gnomAD v2:
11-118004957-G-A
gnomAD v3:
11-118134242-G-A
gnomAD v4:
11-118134242-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118134242G>A , CM000673.2:g.118134242G>A | GRCh38 |
| NC_000011.9:g.118004957G>A , CM000673.1:g.118004957G>A | GRCh37 |
| NC_000011.8:g.117510167G>A | NCBI36 |
| NG_011710.1:g.23674C>T , LRG_330:g.23674C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324727.9:c.*2785C>T MANE Select | ENSP00000322460.4:n.*2785C>T | |
| ENST00000324727.8:c.*2785C>T | ENSP00000322460.4:n.*2785C>T | |
| ENST00000415030.6:n.3615C>T | ||
| ENST00000423160.2:n.3106C>T | ||
| NM_001142348.1:c.*2785C>T | NP_001135820.1:n.*2785C>T | |
| NM_001142349.1:c.*2785C>T | NP_001135821.1:n.*2785C>T | |
| NM_174934.3:c.*2785C>T , LRG_330t1:c.*2785C>T | NP_777594.1:n.*2785C>T | |
| NR_024527.1:n.3497C>T | ||
| NM_001142348.2:c.*2785C>T | NP_001135820.1:n.*2785C>T | |
| NM_001142349.2:c.*2785C>T | NP_001135821.1:n.*2785C>T | |
| NR_024527.2:n.3461C>T | ||
| NM_174934.4:c.*2785C>T MANE Select | NP_777594.1:n.*2785C>T |