Linked Data
ClinVar Variation Id:
963709
dbSNP Id:
rs751042065
ExAC:
3:10183778 G / C
gnomAD v2:
3-10183778-G-C
gnomAD v4:
3-10142094-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10142094G>C , CM000665.2:g.10142094G>C | GRCh38 |
| NC_000003.11:g.10183778G>C , CM000665.1:g.10183778G>C | GRCh37 |
| NC_000003.10:g.10158778G>C | NCBI36 |
| NG_008212.3:g.5460G>C , LRG_322:g.5460G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.247G>C | ENSP00000512434.1:p.Val83Leu | |
| ENST00000696143.1:c.247G>C | ENSP00000512435.1:p.Val83Leu | |
| ENST00000696153.1:c.247G>C | ENSP00000512444.1:p.Val83Leu | |
| ENST00000256474.3:c.247G>C MANE Select | ENSP00000256474.3:p.Val83Leu | |
| ENST00000256474.2:c.247G>C | ENSP00000256474.2:p.Val83Leu | |
| ENST00000345392.2:c.247G>C | ENSP00000344757.2:p.Val83Leu | |
| NM_000551.3:c.247G>C , LRG_322t1:c.247G>C | NP_000542.1:p.Val83Leu | |
| NM_198156.2:c.247G>C | NP_937799.1:p.Val83Leu | |
| XM_011534078.1:c.247G>C | XP_011532380.1:p.Val83Leu | |
| NM_001354723.1:c.247G>C | NP_001341652.1:p.Val83Leu | |
| NM_000551.4:c.247G>C MANE Select | NP_000542.1:p.Val83Leu | |
| NM_001354723.2:c.247G>C | NP_001341652.1:p.Val83Leu | |
| NM_198156.3:c.247G>C | NP_937799.1:p.Val83Leu |