Linked Data
ClinVar Variation Id:
41159
ClinVar RCV Id:
RCV000034058
dbSNP Id:
rs267606562
gnomAD v2:
11-67250625-G-C
gnomAD v3:
11-67483154-G-C
gnomAD v4:
11-67483154-G-C
PubMed:
PMID:22720333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67483154G>C , CM000673.2:g.67483154G>C | GRCh38 |
| NC_000011.9:g.67250625G>C , CM000673.1:g.67250625G>C | GRCh37 |
| NC_000011.8:g.67007201G>C | NCBI36 |
| NG_008969.1:g.5121G>C , LRG_460:g.5121G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000528641.7:c.-5G>C | ENSP00000434982.3:n.-5G>C | |
| ENST00000682324.1:c.-5G>C | ENSP00000508017.1:n.-5G>C | |
| ENST00000682699.1:c.-5G>C | ENSP00000507935.1:n.-5G>C | |
| ENST00000683237.1:c.-5G>C | ENSP00000507343.1:n.-5G>C | |
| ENST00000684006.1:c.-5G>C | ENSP00000507269.1:n.-5G>C | |
| ENST00000684657.1:c.-5G>C | ENSP00000507961.1:n.-5G>C | |
| ENST00000279146.8:c.-5G>C MANE Select | ENSP00000279146.3:n.-5G>C | |
| ENST00000279146.7:c.-5G>C | ENSP00000279146.3:n.-5G>C | |
| ENST00000528641.6:c.-5G>C | ENSP00000434982.2:n.-5G>C | |
| ENST00000529797.1:n.106G>C | ||
| NM_001302960.1:c.-5G>C | NP_001289889.1:n.-5G>C | |
| NM_003977.3:c.-5G>C | NP_003968.3:n.-5G>C | |
| XM_024448761.1:c.-5G>C | XP_024304529.1:n.-5G>C | |
| NM_003977.4:c.-5G>C MANE Select | NP_003968.3:n.-5G>C | |
| NM_001302960.2:c.-5G>C | NP_001289889.1:n.-5G>C |