Linked Data
ClinVar Variation Id:
336354
ClinVar RCV Id:
RCV000259764
dbSNP Id:
rs7596198
gnomAD v2:
2-47131077-G-C
gnomAD v3:
2-46903938-G-C
gnomAD v4:
2-46903938-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46903938G>C , CM000664.2:g.46903938G>C | GRCh38 |
| NC_000002.11:g.47131077G>C , CM000664.1:g.47131077G>C | GRCh37 |
| NC_000002.10:g.46984581G>C | NCBI36 |
| NG_016428.2:g.42918C>G , LRG_566:g.42918C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319466.9:c.*1525C>G MANE Select | ENSP00000317271.4:n.*1525C>G | |
| ENST00000649435.1:c.*1632C>G | ENSP00000498024.1:n.*1632C>G | |
| ENST00000319466.8:c.*1525C>G | ENSP00000317271.4:n.*1525C>G | |
| ENST00000409105.5:c.*1525C>G | ENSP00000386651.1:n.*1525C>G | |
| ENST00000409800.5:c.*1525C>G | ENSP00000387202.1:n.*1525C>G | |
| ENST00000409913.5:c.*1525C>G | ENSP00000386941.1:n.*1525C>G | |
| ENST00000444761.6:c.*1525C>G | ENSP00000394647.2:n.*1525C>G | |
| NM_001171506.2:c.*1525C>G , LRG_566t1:c.*1525C>G | NP_001164977.1:n.*1525C>G | |
| NM_001171507.2:c.*1525C>G , LRG_566t2:c.*1525C>G | NP_001164978.1:n.*1525C>G | |
| NM_001171508.2:c.*1525C>G , LRG_566t3:c.*1525C>G | NP_001164979.1:n.*1525C>G | |
| NM_001171509.2:c.*1525C>G | NP_001164980.1:n.*1525C>G | |
| NM_001171510.2:c.*1525C>G | NP_001164981.1:n.*1525C>G | |
| NM_001171511.2:c.*1525C>G | NP_001164982.1:n.*1525C>G | |
| NM_139279.5:c.*1525C>G , LRG_566t4:c.*1525C>G | NP_644808.1:n.*1525C>G | |
| NM_001171509.3:c.*1525C>G | NP_001164980.1:n.*1525C>G | |
| NM_001171510.3:c.*1525C>G | NP_001164981.1:n.*1525C>G | |
| NM_139279.6:c.*1525C>G MANE Select | NP_644808.1:n.*1525C>G | |
| NM_001171511.3:c.*1525C>G | NP_001164982.1:n.*1525C>G |