Linked Data
ClinVar Variation Id:
336392
ClinVar RCV Id:
RCV000308166
dbSNP Id:
rs886056125
gnomAD v2:
2-47142950-G-C
gnomAD v3:
2-46915811-G-C
gnomAD v4:
2-46915811-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46915811G>C , CM000664.2:g.46915811G>C | GRCh38 |
| NC_000002.11:g.47142950G>C , CM000664.1:g.47142950G>C | GRCh37 |
| NC_000002.10:g.46996454G>C | NCBI36 |
| NG_016428.2:g.31045C>G , LRG_566:g.31045C>G | |
| NG_034143.1:g.4683G>C | |
| NG_034143.2:g.4683G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319466.8:c.-95C>G | ENSP00000317271.4:n.-95C>G | |
| ENST00000409147.1:c.-7-7842C>G | ENSP00000387082.1:n.-7-7842C>G | |
| ENST00000409207.5:c.-6-6634C>G | ENSP00000386386.1:n.-6-6634C>G | |
| ENST00000409218.5:c.-7+170C>G | ENSP00000386261.1:n.-7+170C>G | |
| ENST00000409800.5:c.-8+170C>G | ENSP00000387202.1:n.-8+170C>G | |
| ENST00000409913.5:c.-96C>G | ENSP00000386941.1:n.-96C>G | |
| ENST00000444761.6:c.93-7842C>G | ENSP00000394647.2:n.93-7842C>G | |
| ENST00000470873.1:n.203-10217C>G | ||
| ENST00000479225.1:n.144-6634C>G | ||
| ENST00000487121.1:n.157-6634C>G | ||
| NM_001171506.2:c.-189C>G , LRG_566t1:c.-189C>G | NP_001164977.1:n.-189C>G | |
| NM_001171507.2:c.-7+170C>G , LRG_566t2:c.-7+170C>G | NP_001164978.1:n.-7+170C>G | |
| NM_001171508.2:c.-6-6634C>G , LRG_566t3:c.-6-6634C>G | NP_001164979.1:n.-6-6634C>G | |
| NM_001171509.2:c.-96C>G | NP_001164980.1:n.-96C>G | |
| NM_001171510.2:c.-8+170C>G | NP_001164981.1:n.-8+170C>G | |
| NM_001171511.2:c.93-7842C>G | NP_001164982.1:n.93-7842C>G | |
| NM_139279.5:c.-95C>G , LRG_566t4:c.-95C>G | NP_644808.1:n.-95C>G | |
| NM_001171510.3:c.-8+170C>G | NP_001164981.1:n.-8+170C>G | |
| NM_001171511.3:c.93-7842C>G | NP_001164982.1:n.93-7842C>G |