Linked Data
dbSNP Id:
rs1387107095
gnomAD v2:
5-33964006-G-A
gnomAD v4:
5-33963901-G-A
COSMIC:
COSM80536
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.33963901G>A , CM000667.2:g.33963901G>A | GRCh38 |
| NC_000005.9:g.33964006G>A , CM000667.1:g.33964006G>A | GRCh37 |
| NC_000005.8:g.33999763G>A | NCBI36 |
| NG_011691.2:g.25775C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296589.9:c.678C>T MANE Select | ENSP00000296589.4:p.Leu226= | |
| ENST00000296589.8:c.678C>T | ENSP00000296589.4:p.Leu226= | |
| ENST00000382102.7:c.678C>T | ENSP00000371534.3:p.Leu226= | |
| ENST00000505056.1:n.480C>T | ||
| ENST00000509381.1:c.563-9397C>T | ENSP00000421100.1:n.563-9397C>T | |
| ENST00000510600.1:c.153C>T | ENSP00000424010.1:p.Leu51= | |
| NM_001012509.3:c.678C>T | NP_001012527.1:p.Leu226= | |
| NM_001297417.2:c.563-9397C>T | NP_001284346.2:n.563-9397C>T | |
| NM_016180.4:c.678C>T | NP_057264.3:p.Leu226= | |
| XM_011514051.1:c.276C>T | XP_011512353.1:p.Leu92= | |
| XM_011514052.1:c.678C>T | XP_011512354.1:p.Leu226= | |
| XR_925620.1:n.1495C>T | ||
| NM_016180.5:c.678C>T MANE Select | NP_057264.4:p.Leu226= | |
| NM_001012509.4:c.678C>T | NP_001012527.2:p.Leu226= | |
| NM_001297417.3:c.563-9397C>T | NP_001284346.2:n.563-9397C>T | |
| NM_001297417.4:c.563-9397C>T | NP_001284346.2:n.563-9397C>T |