Linked Data
ClinVar Variation Id:
162178
dbSNP Id:
rs2241394
gnomAD v2:
19-6685230-G-C
gnomAD v3:
19-6685219-G-C
gnomAD v4:
19-6685219-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6685219G>C , CM000681.2:g.6685219G>C | GRCh38 |
| NC_000019.9:g.6685230G>C , CM000681.1:g.6685230G>C | GRCh37 |
| NC_000019.8:g.6636230G>C | NCBI36 |
| NG_009557.1:g.40433C>G , LRG_27:g.40433C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695651.1:n.2159-73C>G | ||
| ENST00000695653.1:c.1720-73C>G | ENSP00000512084.1:n.1720-73C>G | |
| ENST00000695654.1:c.2836-73C>G | ENSP00000512085.1:n.2836-73C>G | |
| ENST00000245907.11:c.3811-73C>G MANE Select | ENSP00000245907.4:n.3811-73C>G | |
| ENST00000245907.10:c.3811-73C>G | ENSP00000245907.4:n.3811-73C>G | |
| ENST00000596238.1:n.254-73C>G | ||
| ENST00000601008.1:c.241+1527C>G | ENSP00000471384.1:n.241+1527C>G | |
| NM_000064.3:c.3811-73C>G | NP_000055.2:n.3811-73C>G | |
| NM_000064.4:c.3811-73C>G MANE Select | NP_000055.2:n.3811-73C>G |