Linked Data
dbSNP Id:
rs749752833
ExAC:
3:165547783 C / T
gnomAD v2:
3-165547783-C-T
gnomAD v4:
3-165829995-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.165829995C>T , CM000665.2:g.165829995C>T | GRCh38 |
| NC_000003.11:g.165547783C>T , CM000665.1:g.165547783C>T | GRCh37 |
| NC_000003.10:g.167030477C>T | NCBI36 |
| NG_009031.1:g.12471G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264381.8:c.1039G>A MANE Select | ENSP00000264381.3:p.Val347Met | |
| ENST00000264381.7:c.1039G>A | ENSP00000264381.3:p.Val347Met | |
| ENST00000479451.5:c.107+7319G>A | ENSP00000418325.1:n.107+7319G>A | |
| ENST00000482958.1:c.1039G>A | ENSP00000419804.1:p.Val347Met | |
| ENST00000488954.1:c.107+7319G>A | ENSP00000418504.1:n.107+7319G>A | |
| ENST00000497011.5:c.1039G>A | ENSP00000419505.1:p.Val347Met | |
| NM_000055.2:c.1039G>A | NP_000046.1:p.Val347Met | |
| XM_005247685.1:c.1162G>A | XP_005247742.1:p.Val388Met | |
| NM_000055.3:c.1039G>A | NP_000046.1:p.Val347Met | |
| NR_137635.1:n.159+7319G>A | ||
| NR_137636.1:n.1206G>A | ||
| NM_000055.4:c.1039G>A MANE Select | NP_000046.1:p.Val347Met | |
| NR_137635.2:n.110+7319G>A | ||
| NR_137636.2:n.1157G>A |