Linked Data
ClinVar Variation Id:
2986832
ClinVar RCV Id:
RCV003846487
dbSNP Id:
rs765419083
gnomAD v2:
3-38766712-G-A
gnomAD v3:
3-38725221-G-A
gnomAD v4:
3-38725221-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38725221G>A , CM000665.2:g.38725221G>A | GRCh38 |
| NC_000003.11:g.38766712G>A , CM000665.1:g.38766712G>A | GRCh37 |
| NC_000003.10:g.38741716G>A | NCBI36 |
| NG_031891.2:g.73790C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.3181C>T MANE Select | ENSP00000390600.2:p.Leu1061= | |
| ENST00000643924.1:c.3178C>T | ENSP00000495595.1:p.Leu1060= | |
| ENST00000655275.1:c.3205C>T | ENSP00000499510.1:p.Leu1069= | |
| ENST00000449082.2:c.3181C>T | ENSP00000390600.2:p.Leu1061= | |
| NM_001293306.2:c.3178C>T | NP_001280235.2:p.Leu1060= | |
| NM_001293307.2:c.2887C>T | NP_001280236.2:p.Leu963= | |
| NM_006514.3:c.3181C>T | NP_006505.3:p.Leu1061= | |
| XM_005265371.2:c.3190C>T | XP_005265428.1:p.Leu1064= | |
| XM_011533993.1:c.3187C>T | XP_011532295.1:p.Leu1063= | |
| XM_011533994.1:c.2896C>T | XP_011532296.1:p.Leu966= | |
| XM_005265371.3:c.3190C>T | XP_005265428.1:p.Leu1064= | |
| XM_011533993.2:c.3187C>T | XP_011532295.1:p.Leu1063= | |
| XM_011533994.2:c.2896C>T | XP_011532296.1:p.Leu966= | |
| NM_006514.4:c.3181C>T MANE Select | NP_006505.4:p.Leu1061= |