Linked Data
ClinVar Variation Id:
208844
ClinVar RCV Id:
RCV000190878
dbSNP Id:
rs797045136
gnomAD v4:
11-66568273-C-G
PubMed:
PMID:25274848
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66568273C>G , CM000673.2:g.66568273C>G | GRCh38 |
| NC_000011.9:g.66335744C>G , CM000673.1:g.66335744C>G | GRCh37 |
| NC_000011.8:g.66092320C>G | NCBI36 |
| NG_032973.1:g.5304G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310325.10:c.213+1G>C MANE Select | ENSP00000310832.5:n.213+1G>C | |
| ENST00000524994.6:c.213+1G>C | ENSP00000433082.2:n.213+1G>C | |
| ENST00000525733.6:c.213+1G>C | ENSP00000434936.2:n.213+1G>C | |
| ENST00000526010.2:c.-63-191G>C | ENSP00000435822.2:n.-63-191G>C | |
| ENST00000527141.6:n.113-191G>C | ||
| ENST00000676860.1:n.42+1G>C | ||
| ENST00000676924.1:c.213+1G>C | ENSP00000503579.1:n.213+1G>C | |
| ENST00000677005.1:c.213+1G>C | ENSP00000503238.1:n.213+1G>C | |
| ENST00000677186.1:n.333+1G>C | ||
| ENST00000677298.1:n.298+1G>C | ||
| ENST00000677365.1:n.272+1G>C | ||
| ENST00000677526.1:c.213+1G>C | ENSP00000504693.1:n.213+1G>C | |
| ENST00000677587.1:c.213+1G>C | ENSP00000503791.1:n.213+1G>C | |
| ENST00000677896.1:c.213+1G>C | ENSP00000504605.1:n.213+1G>C | |
| ENST00000677920.1:c.213+1G>C | ENSP00000503614.1:n.213+1G>C | |
| ENST00000678154.1:c.213+1G>C | ENSP00000502935.1:n.213+1G>C | |
| ENST00000678294.1:n.329+1G>C | ||
| ENST00000678305.1:c.213+1G>C | ENSP00000504383.1:n.213+1G>C | |
| ENST00000678383.1:n.222+1G>C | ||
| ENST00000678413.1:c.213+1G>C | ENSP00000503232.1:n.213+1G>C | |
| ENST00000678471.1:c.213+1G>C | ENSP00000502949.1:n.213+1G>C | |
| ENST00000678710.1:c.213+1G>C | ENSP00000504254.1:n.213+1G>C | |
| ENST00000678872.1:c.213+1G>C | ENSP00000503425.1:n.213+1G>C | |
| ENST00000678946.1:n.145+1G>C | ||
| ENST00000678953.1:c.213+1G>C | ENSP00000504169.1:n.213+1G>C | |
| ENST00000679011.1:c.213+1G>C | ENSP00000503980.1:n.213+1G>C | |
| ENST00000679024.1:c.213+1G>C | ENSP00000503506.1:n.213+1G>C | |
| ENST00000679160.1:c.213+1G>C | ENSP00000503972.1:n.213+1G>C | |
| ENST00000679314.1:c.213+1G>C | ENSP00000503465.1:n.213+1G>C | |
| ENST00000679347.1:c.213+1G>C | ENSP00000503676.1:n.213+1G>C | |
| ENST00000310325.9:c.213+1G>C | ENSP00000310832.5:n.213+1G>C | |
| ENST00000526010.1:c.-63-191G>C | ENSP00000435822.1:n.-63-191G>C | |
| NM_003793.3:c.213+1G>C | NP_003784.2:n.213+1G>C | |
| NM_003793.4:c.213+1G>C MANE Select | NP_003784.2:n.213+1G>C |