Linked Data
ClinVar Variation Id:
429749
dbSNP Id:
rs1131691567
gnomAD v2:
11-108016928-G-C
gnomAD v4:
11-108146201-G-C
PubMed:
PMID:1627655
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108146201G>C , CM000673.2:g.108146201G>C | GRCh38 |
| NC_000011.9:g.108016928G>C , CM000673.1:g.108016928G>C | GRCh37 |
| NC_000011.8:g.107522138G>C | NCBI36 |
| NG_009888.1:g.29671G>C | |
| NG_009888.2:g.34497G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265838.9:c.1006-1G>C MANE Select | ENSP00000265838.4:n.1006-1G>C | |
| ENST00000671707.1:n.1101-1G>C | ||
| ENST00000672031.1:c.941-1G>C | ENSP00000500463.1:n.941-1G>C | |
| ENST00000672284.1:c.736-1G>C | ENSP00000500444.1:n.736-1G>C | |
| ENST00000672354.1:c.1006-1G>C | ENSP00000500490.1:n.1006-1G>C | |
| ENST00000672367.1:c.643-1G>C | ENSP00000500209.1:n.643-1G>C | |
| ENST00000672580.1:c.*261-1G>C | ENSP00000500366.1:n.*261-1G>C | |
| ENST00000672907.1:c.691-1G>C | ENSP00000500928.1:n.691-1G>C | |
| ENST00000673000.1:n.1094-1G>C | ||
| ENST00000673531.1:c.736-1G>C | ENSP00000500163.1:n.736-1G>C | |
| ENST00000265838.8:c.1006-1G>C | ENSP00000265838.4:n.1006-1G>C | |
| ENST00000533597.1:n.81G>C | ||
| NM_000019.3:c.1006-1G>C | NP_000010.1:n.1006-1G>C | |
| XM_006718834.2:c.736-1G>C | XP_006718897.1:n.736-1G>C | |
| XM_006718835.2:c.736-1G>C | XP_006718898.1:n.736-1G>C | |
| XM_006718835.3:c.736-1G>C | XP_006718898.1:n.736-1G>C | |
| XM_017017681.1:c.736-1G>C | XP_016873170.1:n.736-1G>C | |
| XM_017017682.2:c.628-1G>C | XP_016873171.1:n.628-1G>C | |
| XM_017017683.2:c.628-1G>C | XP_016873172.1:n.628-1G>C | |
| XM_024448511.1:c.736-1G>C | XP_024304279.1:n.736-1G>C | |
| XM_024448512.1:c.736-1G>C | XP_024304280.1:n.736-1G>C | |
| XM_024448513.1:c.736-1G>C | XP_024304281.1:n.736-1G>C | |
| XM_024448514.1:c.736-1G>C | XP_024304282.1:n.736-1G>C | |
| XM_024448515.1:c.736-1G>C | XP_024304283.1:n.736-1G>C | |
| NM_000019.4:c.1006-1G>C MANE Select | NP_000010.1:n.1006-1G>C | |
| NM_001386677.1:c.1006-1G>C | NP_001373606.1:n.1006-1G>C | |
| NM_001386678.1:c.691-1G>C | NP_001373607.1:n.691-1G>C | |
| NM_001386679.1:c.709-1G>C | NP_001373608.1:n.709-1G>C | |
| NM_001386681.1:c.736-1G>C | NP_001373610.1:n.736-1G>C | |
| NM_001386682.1:c.736-1G>C | NP_001373611.1:n.736-1G>C | |
| NM_001386685.1:c.736-1G>C | NP_001373614.1:n.736-1G>C | |
| NM_001386686.1:c.736-1G>C | NP_001373615.1:n.736-1G>C | |
| NM_001386687.1:c.736-1G>C | NP_001373616.1:n.736-1G>C | |
| NM_001386688.1:c.736-1G>C | NP_001373617.1:n.736-1G>C | |
| NM_001386689.1:c.736-1G>C | NP_001373618.1:n.736-1G>C | |
| NM_001386690.1:c.736-1G>C | NP_001373619.1:n.736-1G>C | |
| NM_001386691.1:c.736-1G>C | NP_001373620.1:n.736-1G>C | |
| NR_170162.1:n.981-1G>C | ||
| NR_170163.1:n.1039-1G>C |