Linked Data
ClinVar Variation Id:
219470
dbSNP Id:
rs778846471
ExAC:
3:10188244 G / T
gnomAD v2:
3-10188244-G-T
gnomAD v3:
3-10146560-G-T
gnomAD v4:
3-10146560-G-T
COSMIC:
COSM1417301
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146560G>T , CM000665.2:g.10146560G>T | GRCh38 |
| NC_000003.11:g.10188244G>T , CM000665.1:g.10188244G>T | GRCh37 |
| NC_000003.10:g.10163244G>T | NCBI36 |
| NG_008212.3:g.9926G>T , LRG_322:g.9926G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*64G>T | ENSP00000512434.1:n.*64G>T | |
| ENST00000696143.1:c.600-3227G>T | ENSP00000512435.1:n.600-3227G>T | |
| ENST00000696153.1:c.387G>T | ENSP00000512444.1:p.Leu129= | |
| ENST00000256474.3:c.387G>T MANE Select | ENSP00000256474.3:p.Leu129= | |
| ENST00000256474.2:c.387G>T | ENSP00000256474.2:p.Leu129= | |
| ENST00000345392.2:c.341-3227G>T | ENSP00000344757.2:n.341-3227G>T | |
| ENST00000477538.1:n.523G>T | ||
| NM_000551.3:c.387G>T , LRG_322t1:c.387G>T | NP_000542.1:p.Leu129= | |
| NM_198156.2:c.341-3227G>T | NP_937799.1:n.341-3227G>T | |
| XM_011534078.1:c.*64G>T | XP_011532380.1:n.*64G>T | |
| NM_001354723.1:c.*18-3227G>T | NP_001341652.1:n.*18-3227G>T | |
| NM_000551.4:c.387G>T MANE Select | NP_000542.1:p.Leu129= | |
| NM_001354723.2:c.*18-3227G>T | NP_001341652.1:n.*18-3227G>T | |
| NM_198156.3:c.341-3227G>T | NP_937799.1:n.341-3227G>T |