Linked Data
ClinVar Variation Id:
1261351
dbSNP Id:
rs677
ExAC:
1:173876561 C / G
gnomAD v2:
1-173876561-C-G
gnomAD v3:
1-173907423-C-G
gnomAD v4:
1-173907423-C-G
ERepo:
CA1251245/MONDO:0013144/084
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173907423C>G , CM000663.2:g.173907423C>G | GRCh38 |
| NC_000001.10:g.173876561C>G , CM000663.1:g.173876561C>G | GRCh37 |
| NC_000001.9:g.172143184C>G | NCBI36 |
| NG_012462.1:g.14956G>C , LRG_577:g.14956G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1218+27G>C MANE Select | ENSP00000356671.3:n.1218+27G>C | |
| ENST00000367698.3:c.1218+27G>C | ENSP00000356671.3:n.1218+27G>C | |
| ENST00000617423.4:c.603+27G>C | ENSP00000478688.1:n.603+27G>C | |
| NM_000488.3:c.1218+27G>C , LRG_577t1:c.1218+27G>C | NP_000479.1:n.1218+27G>C | |
| XM_005245198.2:c.1074+27G>C | XP_005245255.1:n.1074+27G>C | |
| NM_001365052.1:c.1074+27G>C | NP_001351981.1:n.1074+27G>C | |
| NM_000488.4:c.1218+27G>C MANE Select | NP_000479.1:n.1218+27G>C | |
| NM_001365052.2:c.1074+27G>C | NP_001351981.1:n.1074+27G>C | |
| NM_001386302.1:c.1341+27G>C | NP_001373231.1:n.1341+27G>C | |
| NM_001386303.1:c.1299+27G>C | NP_001373232.1:n.1299+27G>C | |
| NM_001386304.1:c.1197+27G>C | NP_001373233.1:n.1197+27G>C | |
| NM_001386305.1:c.1161+27G>C | NP_001373234.1:n.1161+27G>C | |
| NM_001386306.1:c.1002+27G>C | NP_001373235.1:n.1002+27G>C |