Linked Data
ClinVar Variation Id:
534316
ClinVar RCV Id:
RCV000641823
dbSNP Id:
rs1296932263
gnomAD v4:
6-7565355-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7565355G>C , CM000668.2:g.7565355G>C | GRCh38 |
| NC_000006.11:g.7565588G>C , CM000668.1:g.7565588G>C | GRCh37 |
| NC_000006.10:g.7510587G>C | NCBI36 |
| NG_008803.1:g.28719G>C , LRG_423:g.28719G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710359.1:c.778-4G>C | ENSP00000518230.1:n.778-4G>C | |
| ENST00000682228.1:n.98G>C | ||
| ENST00000379802.8:c.778-4G>C MANE Select | ENSP00000369129.3:n.778-4G>C | |
| ENST00000379802.7:c.778-4G>C | ENSP00000369129.3:n.778-4G>C | |
| ENST00000418664.2:c.778-4G>C | ENSP00000396591.2:n.778-4G>C | |
| ENST00000506617.1:n.296-4G>C | ||
| NM_001008844.1:c.778-4G>C | NP_001008844.1:n.778-4G>C | |
| NM_004415.2:c.778-4G>C , LRG_423t1:c.778-4G>C | NP_004406.2:n.778-4G>C | |
| XM_011514323.1:c.778-4G>C | XP_011512625.1:n.778-4G>C | |
| NM_001008844.2:c.778-4G>C | NP_001008844.1:n.778-4G>C | |
| NM_001319034.1:c.778-4G>C | NP_001305963.1:n.778-4G>C | |
| NM_004415.3:c.778-4G>C | NP_004406.2:n.778-4G>C | |
| NM_004415.4:c.778-4G>C MANE Select | NP_004406.2:n.778-4G>C | |
| NM_001008844.3:c.778-4G>C | NP_001008844.1:n.778-4G>C | |
| NM_001319034.2:c.778-4G>C | NP_001305963.1:n.778-4G>C |