Linked Data
ClinVar Variation Id:
261466
dbSNP Id:
rs7977474
ExAC:
12:21711111 G / C
gnomAD v2:
12-21711111-G-C
gnomAD v3:
12-21558177-G-C
gnomAD v4:
12-21558177-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21558177G>C , CM000674.2:g.21558177G>C | GRCh38 |
| NC_000012.11:g.21711111G>C , CM000674.1:g.21711111G>C | GRCh37 |
| NC_000012.10:g.21602378G>C | NCBI36 |
| NG_016167.1:g.51671C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261195.3:c.1422+23C>G MANE Select | ENSP00000261195.2:n.1422+23C>G | |
| ENST00000647960.1:c.*1424+23C>G | ENSP00000497202.1:n.*1424+23C>G | |
| ENST00000648372.1:n.1372C>G | ||
| ENST00000261195.2:c.1422+23C>G | ENSP00000261195.2:n.1422+23C>G | |
| NM_021957.3:c.1422+23C>G | NP_068776.2:n.1422+23C>G | |
| XM_005253352.1:c.1422+23C>G | XP_005253409.1:n.1422+23C>G | |
| XM_005253354.2:c.1203+23C>G | XP_005253411.1:n.1203+23C>G | |
| XM_006719062.2:c.1422+23C>G | XP_006719125.1:n.1422+23C>G | |
| XM_006719063.2:c.1191+23C>G | XP_006719126.1:n.1191+23C>G | |
| NM_021957.4:c.1422+23C>G MANE Select | NP_068776.2:n.1422+23C>G | |
| XM_006719063.3:c.1191+23C>G | XP_006719126.1:n.1191+23C>G | |
| XM_024448960.1:c.1422+23C>G | XP_024304728.1:n.1422+23C>G |