Linked Data
ClinVar Variation Id:
357672
ClinVar RCV Id:
RCV000271627
dbSNP Id:
rs758486753
ExAC:
6:6222255 A / G
gnomAD v2:
6-6222255-A-G
gnomAD v3:
6-6222022-A-G
gnomAD v4:
6-6222022-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.6222022A>G , CM000668.2:g.6222022A>G | GRCh38 |
| NC_000006.11:g.6222255A>G , CM000668.1:g.6222255A>G | GRCh37 |
| NC_000006.10:g.6167254A>G | NCBI36 |
| NG_008107.1:g.103670T>C , LRG_549:g.103670T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264870.8:c.1112+11T>C MANE Select | ENSP00000264870.3:n.1112+11T>C | |
| ENST00000264870.7:c.1112+11T>C | ENSP00000264870.3:n.1112+11T>C | |
| ENST00000445223.1:c.262+11T>C | ||
| NM_000129.3:c.1112+11T>C , LRG_549t1:c.1112+11T>C | NP_000120.2:n.1112+11T>C | |
| XM_006715010.2:c.1112+11T>C | XP_006715073.1:n.1112+11T>C | |
| XM_011514342.1:c.1274+11T>C | XP_011512644.1:n.1274+11T>C | |
| NM_000129.4:c.1112+11T>C MANE Select | NP_000120.2:n.1112+11T>C |