Linked Data
ClinVar Variation Id:
379592
ClinVar RCV Id:
RCV000579663
RCV000662580
RCV002268047
RCV001703562
RCV003316532
RCV002061639
RCV003150206
dbSNP Id:
rs747406535
ExAC:
17:56787207 C / G
gnomAD v2:
17-56787207-C-G
gnomAD v3:
17-58709846-C-G
gnomAD v4:
17-58709846-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58709846C>G , CM000679.2:g.58709846C>G | GRCh38 |
| NC_000017.10:g.56787207C>G , CM000679.1:g.56787207C>G | GRCh37 |
| NC_000017.9:g.54142206C>G | NCBI36 |
| NG_023199.1:g.22245C>G , LRG_314:g.22245C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461271.6:c.355-13C>G | ENSP00000464056.2:n.355-13C>G | |
| ENST00000697678.1:n.608-13C>G | ||
| ENST00000697679.1:n.1780-13C>G | ||
| ENST00000697680.1:c.*1570-13C>G | ENSP00000513392.1:n.*1570-13C>G | |
| ENST00000697681.1:c.*1867-13C>G | ENSP00000513393.1:n.*1867-13C>G | |
| ENST00000697683.1:c.*1570-13C>G | ENSP00000513395.1:n.*1570-13C>G | |
| ENST00000697684.1:n.766-13C>G | ||
| ENST00000697685.1:c.*1403-13C>G | ENSP00000513396.1:n.*1403-13C>G | |
| ENST00000697686.1:c.355-13C>G | ENSP00000513397.1:n.355-13C>G | |
| ENST00000697687.1:n.585-13C>G | ||
| ENST00000697688.1:n.752-13C>G | ||
| ENST00000697689.1:c.*1242-13C>G | ENSP00000513398.1:n.*1242-13C>G | |
| ENST00000697690.1:c.706-13C>G | ENSP00000513399.1:n.706-13C>G | |
| ENST00000697691.1:c.*678-13C>G | ENSP00000513400.1:n.*678-13C>G | |
| ENST00000697692.1:c.*718-13C>G | ENSP00000513401.1:n.*718-13C>G | |
| ENST00000697694.1:c.355-13C>G | ENSP00000513402.1:n.355-13C>G | |
| ENST00000697695.1:n.1313-13C>G | ||
| ENST00000337432.9:c.706-13C>G MANE Select | ENSP00000336701.4:n.706-13C>G | |
| ENST00000337432.8:c.706-13C>G | ENSP00000336701.4:n.706-13C>G | |
| ENST00000413590.5:c.344-13C>G | ||
| ENST00000425173.5:c.622-13C>G | ENSP00000407282.1:n.622-13C>G | |
| ENST00000461271.5:c.355-13C>G | ENSP00000464056.1:n.355-13C>G | |
| ENST00000475762.5:c.*1409-13C>G | ENSP00000432421.1:n.*1409-13C>G | |
| ENST00000482007.5:c.*134-13C>G | ENSP00000433332.1:n.*134-13C>G | |
| ENST00000487525.5:c.*279-13C>G | ENSP00000431637.1:n.*279-13C>G | |
| ENST00000578151.1:n.28C>G | ||
| ENST00000581221.5:n.208C>G | ||
| ENST00000583539.5:c.706-13C>G | ENSP00000463121.1:n.706-13C>G | |
| ENST00000584617.5:c.428-13C>G | ||
| NM_058216.2:c.706-13C>G | NP_478123.1:n.706-13C>G | |
| NR_103872.1:n.610-13C>G | ||
| XM_006722001.2:c.706-13C>G | XP_006722064.1:n.706-13C>G | |
| XM_006722002.2:c.706-13C>G | XP_006722065.1:n.706-13C>G | |
| XM_006722004.2:c.355-13C>G | XP_006722067.1:n.355-13C>G | |
| XM_006722005.2:c.355-13C>G | XP_006722068.1:n.355-13C>G | |
| XM_011525092.1:c.355-13C>G | XP_011523394.1:n.355-13C>G | |
| XM_011525093.1:c.355-13C>G | XP_011523395.1:n.355-13C>G | |
| XM_011525094.1:c.355-13C>G | XP_011523396.1:n.355-13C>G | |
| XR_934513.1:n.924-13C>G | ||
| XR_934514.1:n.924-13C>G | ||
| XM_006722001.4:c.706-13C>G | XP_006722064.1:n.706-13C>G | |
| XM_006722002.4:c.706-13C>G | XP_006722065.1:n.706-13C>G | |
| XM_006722004.3:c.355-13C>G | XP_006722067.1:n.355-13C>G | |
| XM_006722005.3:c.355-13C>G | XP_006722068.1:n.355-13C>G | |
| XM_011525092.2:c.355-13C>G | XP_011523394.1:n.355-13C>G | |
| XM_011525093.2:c.355-13C>G | XP_011523395.1:n.355-13C>G | |
| XM_011525094.2:c.355-13C>G | XP_011523396.1:n.355-13C>G | |
| XM_017024914.1:c.355-13C>G | XP_016880403.1:n.355-13C>G | |
| XM_017024915.1:c.355-13C>G | XP_016880404.1:n.355-13C>G | |
| XM_017024916.1:c.355-13C>G | XP_016880405.1:n.355-13C>G | |
| XM_017024917.1:c.355-13C>G | XP_016880406.1:n.355-13C>G | |
| XM_017024918.2:c.355-13C>G | XP_016880407.1:n.355-13C>G | |
| XM_017024919.1:c.355-13C>G | XP_016880408.1:n.355-13C>G | |
| XR_934513.3:n.1355-13C>G | ||
| XR_934514.3:n.1355-13C>G | ||
| NM_058216.3:c.706-13C>G MANE Select | NP_478123.1:n.706-13C>G | |
| NR_103872.2:n.581-13C>G |