Linked Data
ClinVar Variation Id:
551729
ClinVar RCV Id:
RCV000666863
dbSNP Id:
rs371926082
ExAC:
12:103288502 C / G
gnomAD v2:
12-103288502-C-G
gnomAD v3:
12-102894724-C-G
gnomAD v4:
12-102894724-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894724C>G , CM000674.2:g.102894724C>G | GRCh38 |
| NC_000012.11:g.103288502C>G , CM000674.1:g.103288502C>G | GRCh37 |
| NC_000012.10:g.101812632C>G | NCBI36 |
| NG_008690.1:g.27879G>C | |
| NG_008690.2:g.68687G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.352+11G>C MANE Select | ENSP00000448059.1:n.352+11G>C | |
| ENST00000307000.7:c.337+11G>C | ENSP00000303500.2:n.337+11G>C | |
| ENST00000548928.1:n.274+11G>C | ||
| ENST00000549111.5:n.448+11G>C | ||
| ENST00000550978.6:c.336+11G>C | ||
| ENST00000551337.5:c.352+11G>C | ENSP00000447620.1:n.352+11G>C | |
| ENST00000551988.5:n.441+11G>C | ||
| ENST00000553106.5:c.352+11G>C | ENSP00000448059.1:n.352+11G>C | |
| NM_000277.1:c.352+11G>C | NP_000268.1:n.352+11G>C | |
| XM_011538422.1:c.352+11G>C | XP_011536724.1:n.352+11G>C | |
| NM_000277.2:c.352+11G>C | NP_000268.1:n.352+11G>C | |
| NM_001354304.1:c.352+11G>C | NP_001341233.1:n.352+11G>C | |
| XM_017019370.2:c.352+11G>C | XP_016874859.1:n.352+11G>C | |
| NM_000277.3:c.352+11G>C MANE Select | NP_000268.1:n.352+11G>C | |
| NM_001354304.2:c.352+11G>C | NP_001341233.1:n.352+11G>C |