Linked Data
dbSNP Id:
rs55781031
gnomAD v2:
3-165504220-A-G
gnomAD v3:
3-165786432-A-G
gnomAD v4:
3-165786432-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165786432A>G , CM000665.2:g.165786432A>G | GRCh38 |
| NC_000003.11:g.165504220A>G , CM000665.1:g.165504220A>G | GRCh37 |
| NC_000003.10:g.166986914A>G | NCBI36 |
| NG_009031.1:g.56034T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264381.8:c.1518-121T>C MANE Select | ENSP00000264381.3:n.1518-121T>C | |
| ENST00000264381.7:c.1518-121T>C | ENSP00000264381.3:n.1518-121T>C | |
| ENST00000479451.5:c.108-121T>C | ENSP00000418325.1:n.108-121T>C | |
| ENST00000482958.1:c.*24-121T>C | ENSP00000419804.1:n.*24-121T>C | |
| ENST00000488954.1:c.108-121T>C | ENSP00000418504.1:n.108-121T>C | |
| ENST00000497011.5:c.1518-121T>C | ENSP00000419505.1:n.1518-121T>C | |
| NM_000055.2:c.1518-121T>C | NP_000046.1:n.1518-121T>C | |
| XM_005247685.1:c.1641-121T>C | XP_005247742.1:n.1641-121T>C | |
| NM_000055.3:c.1518-121T>C | NP_000046.1:n.1518-121T>C | |
| NR_137635.1:n.160-121T>C | ||
| NR_137636.1:n.1685-121T>C | ||
| NM_000055.4:c.1518-121T>C MANE Select | NP_000046.1:n.1518-121T>C | |
| NR_137635.2:n.111-121T>C | ||
| NR_137636.2:n.1636-121T>C |