Linked Data
ClinVar Variation Id:
18222
ClinVar RCV Id:
RCV000019883
dbSNP Id:
rs1800580
gnomAD v4:
4-73419640-G-C
PubMed:
PMID:1390939
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73419640G>C , CM000666.2:g.73419640G>C | GRCh38 |
| NC_000004.11:g.74285357G>C , CM000666.1:g.74285357G>C | GRCh37 |
| NC_000004.10:g.74504221G>C | NCBI36 |
| NG_009291.1:g.20386G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295897.9:c.1785+1G>C MANE Select | ENSP00000295897.4:n.1785+1G>C | |
| ENST00000295897.8:c.1785+1G>C | ENSP00000295897.4:n.1785+1G>C | |
| ENST00000401494.7:c.1440+1G>C | ENSP00000384695.3:n.1440+1G>C | |
| ENST00000415165.6:c.1209+1G>C | ENSP00000401820.2:n.1209+1G>C | |
| ENST00000476441.6:c.*1064+1G>C | ENSP00000423727.1:n.*1064+1G>C | |
| ENST00000495173.1:n.93+1G>C | ||
| ENST00000503124.5:c.1335+1G>C | ENSP00000421027.1:n.1335+1G>C | |
| ENST00000505649.5:n.1332+1G>C | ||
| ENST00000508932.5:n.175+185G>C | ||
| ENST00000509063.5:c.1785+1G>C | ENSP00000422784.1:n.1785+1G>C | |
| ENST00000511370.1:c.1318+1G>C | ||
| ENST00000621085.4:c.1146+1G>C | ENSP00000483421.1:n.1146+1G>C | |
| ENST00000621628.4:c.1146+1G>C | ENSP00000480485.1:n.1146+1G>C | |
| NM_000477.5:c.1785+1G>C | NP_000468.1:n.1785+1G>C | |
| NM_000477.6:c.1785+1G>C | NP_000468.1:n.1785+1G>C | |
| NM_000477.7:c.1785+1G>C MANE Select | NP_000468.1:n.1785+1G>C |