Linked Data
gnomAD v4:
3-165830284-C-A
COSMIC:
COSM4115006
MyVariant Identifiers:
chr3:g.165548072C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165830284C>A , CM000665.2:g.165830284C>A | GRCh38 |
| NC_000003.11:g.165548072C>A , CM000665.1:g.165548072C>A | GRCh37 |
| NC_000003.10:g.167030766C>A | NCBI36 |
| NG_009031.1:g.12182G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.750G>T MANE Select | ENSP00000264381.3:p.Leu250= | |
| ENST00000264381.7:c.750G>T | ENSP00000264381.3:p.Leu250= | |
| ENST00000479451.5:c.107+7030G>T | ENSP00000418325.1:n.107+7030G>T | |
| ENST00000482958.1:c.750G>T | ENSP00000419804.1:p.Leu250= | |
| ENST00000488954.1:c.107+7030G>T | ENSP00000418504.1:n.107+7030G>T | |
| ENST00000497011.5:c.750G>T | ENSP00000419505.1:p.Leu250= | |
| NM_000055.2:c.750G>T | NP_000046.1:p.Leu250= | |
| XM_005247685.1:c.873G>T | XP_005247742.1:p.Leu291= | |
| NM_000055.3:c.750G>T | NP_000046.1:p.Leu250= | |
| NR_137635.1:n.159+7030G>T | ||
| NR_137636.1:n.917G>T | ||
| NM_000055.4:c.750G>T MANE Select | NP_000046.1:p.Leu250= | |
| NR_137635.2:n.110+7030G>T | ||
| NR_137636.2:n.868G>T |