Linked Data
ClinVar Variation Id:
678644
ClinVar RCV Id:
RCV000838246
dbSNP Id:
rs11913319
gnomAD v2:
22-19867539-C-G
gnomAD v3:
22-19880016-C-G
gnomAD v4:
22-19880016-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19880016C>G , CM000684.2:g.19880016C>G | GRCh38 |
| NC_000022.10:g.19867539C>G , CM000684.1:g.19867539C>G | GRCh37 |
| NC_000022.9:g.18247539C>G | NCBI36 |
| NG_011835.1:g.66821G>C , LRG_417:g.66821G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400521.7:c.1275+163G>C MANE Select | ENSP00000383365.1:n.1275+163G>C | |
| ENST00000400518.5:c.1185+163G>C | ENSP00000383362.1:n.1185+163G>C | |
| ENST00000400519.6:c.1272+163G>C | ENSP00000383363.1:n.1272+163G>C | |
| ENST00000400521.6:c.1275+163G>C | ENSP00000383365.1:n.1275+163G>C | |
| ENST00000400525.6:c.1206+163G>C | ENSP00000383369.3:n.1206+163G>C | |
| ENST00000462330.5:c.198+163G>C | ENSP00000485603.2:n.198+163G>C | |
| ENST00000462843.2:c.225+163G>C | ENSP00000485466.2:n.225+163G>C | |
| ENST00000474308.5:c.1218+163G>C | ENSP00000485665.1:n.1218+163G>C | |
| ENST00000485358.5:c.243+163G>C | ENSP00000485499.2:n.243+163G>C | |
| ENST00000487165.5:n.1369+163G>C | ||
| ENST00000494454.5:n.1349+163G>C | ||
| ENST00000495655.2:n.819+163G>C | ||
| ENST00000542719.6:c.987+163G>C | ENSP00000485128.2:n.987+163G>C | |
| ENST00000634471.1:n.336+163G>C | ||
| ENST00000634537.1:c.504+163G>C | ENSP00000489208.1:n.504+163G>C | |
| NM_006440.4:c.1275+163G>C | NP_006431.2:n.1275+163G>C | |
| NM_001352300.1:c.1272+163G>C | NP_001339229.1:n.1272+163G>C | |
| NM_001352301.1:c.1185+163G>C | NP_001339230.1:n.1185+163G>C | |
| NM_001352302.1:c.987+163G>C | NP_001339231.1:n.987+163G>C | |
| NR_147957.1:n.1407+163G>C | ||
| NM_006440.5:c.1275+163G>C MANE Select | NP_006431.2:n.1275+163G>C | |
| NM_001352300.2:c.1272+163G>C | NP_001339229.1:n.1272+163G>C | |
| NR_147957.2:n.1233+163G>C | ||
| NM_001352301.2:c.1185+163G>C | NP_001339230.1:n.1185+163G>C | |
| NM_001352302.2:c.987+163G>C | NP_001339231.1:n.987+163G>C |