Linked Data
ClinVar Variation Id:
2835
ClinVar RCV Id:
RCV000002969
dbSNP Id:
rs145229472
ExAC:
11:108016927 A / C
gnomAD v2:
11-108016927-A-C
gnomAD v3:
11-108146200-A-C
gnomAD v4:
11-108146200-A-C
PubMed:
PMID:1346617
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108146200A>C , CM000673.2:g.108146200A>C | GRCh38 |
| NC_000011.9:g.108016927A>C , CM000673.1:g.108016927A>C | GRCh37 |
| NC_000011.8:g.107522137A>C | NCBI36 |
| NG_009888.1:g.29670A>C | |
| NG_009888.2:g.34496A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265838.9:c.1006-2A>C MANE Select | ENSP00000265838.4:n.1006-2A>C | |
| ENST00000671707.1:n.1101-2A>C | ||
| ENST00000672031.1:c.941-2A>C | ENSP00000500463.1:n.941-2A>C | |
| ENST00000672284.1:c.736-2A>C | ENSP00000500444.1:n.736-2A>C | |
| ENST00000672354.1:c.1006-2A>C | ENSP00000500490.1:n.1006-2A>C | |
| ENST00000672367.1:c.643-2A>C | ENSP00000500209.1:n.643-2A>C | |
| ENST00000672580.1:c.*261-2A>C | ENSP00000500366.1:n.*261-2A>C | |
| ENST00000672907.1:c.691-2A>C | ENSP00000500928.1:n.691-2A>C | |
| ENST00000673000.1:n.1094-2A>C | ||
| ENST00000673531.1:c.736-2A>C | ENSP00000500163.1:n.736-2A>C | |
| ENST00000265838.8:c.1006-2A>C | ENSP00000265838.4:n.1006-2A>C | |
| ENST00000533597.1:n.80A>C | ||
| NM_000019.3:c.1006-2A>C | NP_000010.1:n.1006-2A>C | |
| XM_006718834.2:c.736-2A>C | XP_006718897.1:n.736-2A>C | |
| XM_006718835.2:c.736-2A>C | XP_006718898.1:n.736-2A>C | |
| XM_006718835.3:c.736-2A>C | XP_006718898.1:n.736-2A>C | |
| XM_017017681.1:c.736-2A>C | XP_016873170.1:n.736-2A>C | |
| XM_017017682.2:c.628-2A>C | XP_016873171.1:n.628-2A>C | |
| XM_017017683.2:c.628-2A>C | XP_016873172.1:n.628-2A>C | |
| XM_024448511.1:c.736-2A>C | XP_024304279.1:n.736-2A>C | |
| XM_024448512.1:c.736-2A>C | XP_024304280.1:n.736-2A>C | |
| XM_024448513.1:c.736-2A>C | XP_024304281.1:n.736-2A>C | |
| XM_024448514.1:c.736-2A>C | XP_024304282.1:n.736-2A>C | |
| XM_024448515.1:c.736-2A>C | XP_024304283.1:n.736-2A>C | |
| NM_000019.4:c.1006-2A>C MANE Select | NP_000010.1:n.1006-2A>C | |
| NM_001386677.1:c.1006-2A>C | NP_001373606.1:n.1006-2A>C | |
| NM_001386678.1:c.691-2A>C | NP_001373607.1:n.691-2A>C | |
| NM_001386679.1:c.709-2A>C | NP_001373608.1:n.709-2A>C | |
| NM_001386681.1:c.736-2A>C | NP_001373610.1:n.736-2A>C | |
| NM_001386682.1:c.736-2A>C | NP_001373611.1:n.736-2A>C | |
| NM_001386685.1:c.736-2A>C | NP_001373614.1:n.736-2A>C | |
| NM_001386686.1:c.736-2A>C | NP_001373615.1:n.736-2A>C | |
| NM_001386687.1:c.736-2A>C | NP_001373616.1:n.736-2A>C | |
| NM_001386688.1:c.736-2A>C | NP_001373617.1:n.736-2A>C | |
| NM_001386689.1:c.736-2A>C | NP_001373618.1:n.736-2A>C | |
| NM_001386690.1:c.736-2A>C | NP_001373619.1:n.736-2A>C | |
| NM_001386691.1:c.736-2A>C | NP_001373620.1:n.736-2A>C | |
| NR_170162.1:n.981-2A>C | ||
| NR_170163.1:n.1039-2A>C |