Linked Data
ClinVar Variation Id:
559843
ClinVar RCV Id:
RCV000677625
dbSNP Id:
rs577163578
gnomAD v3:
4-56820582-G-C
gnomAD v4:
4-56820582-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.56820582G>C , CM000666.2:g.56820582G>C | GRCh38 |
| NC_000004.11:g.57686748G>C , CM000666.1:g.57686748G>C | GRCh37 |
| NC_000004.10:g.57381505G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707144.1:c.206-3C>G | ENSP00000516764.1:n.206-3C>G | |
| ENST00000506738.6:c.206-3C>G MANE Select | ENSP00000425961.1:n.206-3C>G | |
| ENST00000248701.8:c.56-3C>G | ENSP00000248701.4:n.56-3C>G | |
| ENST00000504762.1:c.161-3C>G | ENSP00000423858.1:n.161-3C>G | |
| ENST00000506738.5:c.206-3C>G | ENSP00000425961.1:n.206-3C>G | |
| ENST00000616980.1:c.160+921C>G | ENSP00000478284.1:n.160+921C>G | |
| ENST00000618802.3:c.205+876C>G | ENSP00000477722.1:n.205+876C>G | |
| ENST00000631082.1:c.205+876C>G | ENSP00000487028.1:n.205+876C>G | |
| NM_001271718.1:c.206-3C>G | NP_001258647.1:n.206-3C>G | |
| NM_001271719.1:c.206-43C>G | NP_001258648.1:n.206-43C>G | |
| NM_001271720.1:c.161-3C>G | NP_001258649.1:n.161-3C>G | |
| NM_001271721.1:c.161-43C>G | NP_001258650.1:n.161-43C>G | |
| NM_001271722.1:c.205+876C>G | NP_001258651.1:n.205+876C>G | |
| NM_021114.3:c.56-3C>G | NP_066937.1:n.56-3C>G | |
| NR_073417.1:n.155-43C>G | ||
| NR_073418.1:n.263-3C>G | ||
| NR_073419.1:n.155-3C>G | ||
| XM_011534405.1:c.405+1026C>G | XP_011532707.1:n.405+1026C>G | |
| XM_011534406.1:c.406-43C>G | XP_011532708.1:n.406-43C>G | |
| XM_011534406.2:c.406-43C>G | XP_011532708.1:n.406-43C>G | |
| XM_024454191.1:c.556-3C>G | XP_024309959.1:n.556-3C>G | |
| NM_001271718.2:c.206-3C>G MANE Select | NP_001258647.1:n.206-3C>G | |
| NM_001271719.2:c.206-43C>G | NP_001258648.1:n.206-43C>G | |
| NM_001271720.2:c.161-3C>G | NP_001258649.1:n.161-3C>G | |
| NM_001271721.2:c.161-43C>G | NP_001258650.1:n.161-43C>G | |
| NM_001271722.2:c.205+876C>G | NP_001258651.1:n.205+876C>G | |
| NM_021114.4:c.56-3C>G | NP_066937.1:n.56-3C>G | |
| NR_073417.2:n.383-43C>G | ||
| NR_073419.2:n.383-3C>G |