Linked Data
ClinVar Variation Id:
2893
dbSNP Id:
rs763330792
gnomAD v2:
17-42453087-G-C
gnomAD v3:
17-44375719-G-C
gnomAD v4:
17-44375719-G-C
PubMed:
PMID:1317725
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44375719G>C , CM000679.2:g.44375719G>C | GRCh38 |
| NC_000017.10:g.42453087G>C , CM000679.1:g.42453087G>C | GRCh37 |
| NC_000017.9:g.39808613G>C | NCBI36 |
| NG_008331.1:g.18787C>G , LRG_479:g.18787C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262407.6:c.2602-3C>G MANE Select | ENSP00000262407.5:n.2602-3C>G | |
| ENST00000648408.1:c.2033-3C>G | ||
| ENST00000262407.5:c.2602-3C>G | ENSP00000262407.5:n.2602-3C>G | |
| ENST00000587295.5:c.253+114C>G | ||
| ENST00000592462.5:n.1397-3C>G | ||
| NM_000419.3:c.2602-3C>G , LRG_479t1:c.2602-3C>G | NP_000410.2:n.2602-3C>G | |
| XM_011524749.1:c.2602-3C>G | XP_011523051.1:n.2602-3C>G | |
| XM_011524750.1:c.2602-3C>G | XP_011523052.1:n.2602-3C>G | |
| NM_000419.4:c.2602-3C>G | NP_000410.2:n.2602-3C>G | |
| NM_000419.5:c.2602-3C>G MANE Select | NP_000410.2:n.2602-3C>G |