Linked Data
ClinVar Variation Id:
1266390
ClinVar RCV Id:
RCV001676213
dbSNP Id:
rs2241392
gnomAD v2:
19-6685983-G-C
gnomAD v3:
19-6685972-G-C
gnomAD v4:
19-6685972-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6685972G>C , CM000681.2:g.6685972G>C | GRCh38 |
| NC_000019.9:g.6685983G>C , CM000681.1:g.6685983G>C | GRCh37 |
| NC_000019.8:g.6636983G>C | NCBI36 |
| NG_009557.1:g.39680C>G , LRG_27:g.39680C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695651.1:n.2158+152C>G | ||
| ENST00000695653.1:c.1719+152C>G | ENSP00000512084.1:n.1719+152C>G | |
| ENST00000695654.1:c.2835+152C>G | ENSP00000512085.1:n.2835+152C>G | |
| ENST00000245907.11:c.3810+152C>G MANE Select | ENSP00000245907.4:n.3810+152C>G | |
| ENST00000245907.10:c.3810+152C>G | ENSP00000245907.4:n.3810+152C>G | |
| ENST00000596238.1:n.253+152C>G | ||
| ENST00000601008.1:c.241+774C>G | ENSP00000471384.1:n.241+774C>G | |
| NM_000064.3:c.3810+152C>G | NP_000055.2:n.3810+152C>G | |
| NM_000064.4:c.3810+152C>G MANE Select | NP_000055.2:n.3810+152C>G |