Linked Data
ClinVar Variation Id:
302598
ClinVar RCV Id:
RCV000328170
dbSNP Id:
rs886047718
gnomAD v3:
11-118134540-C-G
gnomAD v4:
11-118134540-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118134540C>G , CM000673.2:g.118134540C>G | GRCh38 |
| NC_000011.9:g.118005255C>G , CM000673.1:g.118005255C>G | GRCh37 |
| NC_000011.8:g.117510465C>G | NCBI36 |
| NG_011710.1:g.23376G>C , LRG_330:g.23376G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324727.9:c.*2487G>C MANE Select | ENSP00000322460.4:n.*2487G>C | |
| ENST00000324727.8:c.*2487G>C | ENSP00000322460.4:n.*2487G>C | |
| ENST00000415030.6:n.3317G>C | ||
| ENST00000423160.2:n.2808G>C | ||
| NM_001142348.1:c.*2487G>C | NP_001135820.1:n.*2487G>C | |
| NM_001142349.1:c.*2487G>C | NP_001135821.1:n.*2487G>C | |
| NM_174934.3:c.*2487G>C , LRG_330t1:c.*2487G>C | NP_777594.1:n.*2487G>C | |
| NR_024527.1:n.3199G>C | ||
| NM_001142348.2:c.*2487G>C | NP_001135820.1:n.*2487G>C | |
| NM_001142349.2:c.*2487G>C | NP_001135821.1:n.*2487G>C | |
| NR_024527.2:n.3163G>C | ||
| NM_174934.4:c.*2487G>C MANE Select | NP_777594.1:n.*2487G>C |