Linked Data
ClinVar Variation Id:
218325
ClinVar RCV Id:
RCV000202577
dbSNP Id:
rs864309510
gnomAD v2:
12-109999658-C-G
gnomAD v4:
12-109561853-C-G
PubMed:
PMID:20556797
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109561853C>G , CM000674.2:g.109561853C>G | GRCh38 |
| NC_000012.11:g.109999658C>G , CM000674.1:g.109999658C>G | GRCh37 |
| NC_000012.10:g.108484041C>G | NCBI36 |
| NG_007096.1:g.16645G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000545712.7:c.349-1G>C MANE Select | ENSP00000445920.1:n.349-1G>C | |
| ENST00000420167.6:c.*178-1G>C | ENSP00000416136.2:n.*178-1G>C | |
| ENST00000503497.7:c.*59-1G>C | ENSP00000474881.1:n.*59-1G>C | |
| ENST00000537496.5:c.349-1G>C | ENSP00000444793.1:n.349-1G>C | |
| ENST00000540016.5:c.193-1G>C | ENSP00000474582.1:n.193-1G>C | |
| ENST00000541763.6:c.349-1G>C | ENSP00000474981.1:n.349-1G>C | |
| ENST00000542390.5:n.376-1G>C | ||
| ENST00000544051.5:c.*143-1G>C | ENSP00000438079.1:n.*143-1G>C | |
| ENST00000545712.6:c.349-1G>C | ENSP00000445920.1:n.349-1G>C | |
| NM_052845.3:c.349-1G>C | NP_443077.1:n.349-1G>C | |
| NR_038118.1:n.422-1G>C | ||
| XM_011538266.1:c.107-1G>C | XP_011536568.1:n.107-1G>C | |
| XM_011538267.1:c.107-1G>C | XP_011536569.1:n.107-1G>C | |
| XM_011538268.1:c.76-1G>C | XP_011536570.1:n.76-1G>C | |
| XM_011538269.1:c.73-1G>C | XP_011536571.1:n.73-1G>C | |
| XM_011538267.3:c.107-1G>C | XP_011536569.1:n.107-1G>C | |
| XM_011538268.2:c.76-1G>C | XP_011536570.1:n.76-1G>C | |
| XM_011538269.2:c.73-1G>C | XP_011536571.1:n.73-1G>C | |
| XM_024448961.1:c.349-1G>C | XP_024304729.1:n.349-1G>C | |
| NM_052845.4:c.349-1G>C MANE Select | NP_443077.1:n.349-1G>C | |
| NR_038118.2:n.373-1G>C |