Linked Data
ClinVar Variation Id:
265179
dbSNP Id:
rs376710410
gnomAD v2:
3-33107043-A-C
gnomAD v3:
3-33065551-A-C
gnomAD v4:
3-33065551-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33065551A>C , CM000665.2:g.33065551A>C | GRCh38 |
| NC_000003.11:g.33107043A>C , CM000665.1:g.33107043A>C | GRCh37 |
| NC_000003.10:g.33082047A>C | NCBI36 |
| NG_009005.1:g.36652T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.464T>G MANE Select | ENSP00000306920.4:p.Leu155Arg | |
| ENST00000307363.9:c.464T>G | ENSP00000306920.4:p.Leu155Arg | |
| ENST00000307377.12:c.252T>G | ENSP00000305920.8:p.Pro84= | |
| ENST00000399402.7:c.374T>G | ENSP00000382333.2:p.Leu125Arg | |
| ENST00000415454.1:c.76-7282T>G | ENSP00000411813.1:n.76-7282T>G | |
| ENST00000438227.1:c.82T>G | ENSP00000401250.1:p.Trp28Gly | |
| ENST00000440656.1:c.71T>G | ENSP00000411769.1:p.Leu24Arg | |
| ENST00000446732.5:c.162T>G | ENSP00000407365.1:p.Pro54= | |
| ENST00000464355.1:n.422T>G | ||
| ENST00000482097.5:n.109-12002T>G | ||
| ENST00000485698.5:n.137-12002T>G | ||
| ENST00000498537.5:n.133-12002T>G | ||
| NM_000404.2:c.464T>G | NP_000395.2:p.Leu155Arg | |
| NM_000404.3:c.464T>G | NP_000395.2:p.Leu155Arg | |
| NM_001079811.1:c.374T>G | NP_001073279.1:p.Leu125Arg | |
| NM_001079811.2:c.374T>G | NP_001073279.1:p.Leu125Arg | |
| NM_001135602.1:c.252T>G | NP_001129074.1:p.Pro84= | |
| NM_001135602.2:c.252T>G | NP_001129074.1:p.Pro84= | |
| NM_001317040.1:c.608T>G | NP_001303969.1:p.Leu203Arg | |
| NM_000404.4:c.464T>G MANE Select | NP_000395.3:p.Leu155Arg | |
| NM_001079811.3:c.374T>G | NP_001073279.2:p.Leu125Arg | |
| NM_001135602.3:c.252T>G | NP_001129074.2:p.Pro84= | |
| NM_001317040.2:c.608T>G | NP_001303969.2:p.Leu203Arg | |
| NM_001393580.1:c.464T>G | NP_001380509.1:p.Leu155Arg |