Linked Data
dbSNP Id:
rs978232300
gnomAD v2:
16-3860755-G-A
gnomAD v4:
16-3810754-G-A
COSMIC:
COSM5850897
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3810754G>A , CM000678.2:g.3810754G>A | GRCh38 |
| NC_000016.9:g.3860755G>A , CM000678.1:g.3860755G>A | GRCh37 |
| NC_000016.8:g.3800756G>A | NCBI36 |
| NG_009873.1:g.74367C>T | |
| NG_009873.2:g.74960C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.824C>T MANE Select | ENSP00000262367.5:p.Pro275Leu | |
| ENST00000635899.1:n.66C>T | ||
| ENST00000262367.9:c.824C>T | ENSP00000262367.5:p.Pro275Leu | |
| ENST00000382070.7:c.824C>T | ENSP00000371502.3:p.Pro275Leu | |
| NM_001079846.1:c.824C>T | NP_001073315.1:p.Pro275Leu | |
| NM_004380.2:c.824C>T | NP_004371.2:p.Pro275Leu | |
| XM_005255124.3:c.824C>T | XP_005255181.1:p.Pro275Leu | |
| XM_005255125.3:c.824C>T | XP_005255182.1:p.Pro275Leu | |
| XM_006720848.2:c.824C>T | XP_006720911.1:p.Pro275Leu | |
| XM_011522380.1:c.770C>T | XP_011520682.1:p.Pro257Leu | |
| XM_011522381.1:c.71C>T | XP_011520683.1:p.Pro24Leu | |
| XM_011522382.1:c.824C>T | XP_011520684.1:p.Pro275Leu | |
| XM_005255124.4:c.824C>T | XP_005255181.1:p.Pro275Leu | |
| XM_005255125.4:c.824C>T | XP_005255182.1:p.Pro275Leu | |
| XM_006720848.3:c.824C>T | XP_006720911.1:p.Pro275Leu | |
| XM_011522381.2:c.71C>T | XP_011520683.1:p.Pro24Leu | |
| XM_011522382.3:c.824C>T | XP_011520684.1:p.Pro275Leu | |
| XM_017022944.1:c.824C>T | XP_016878433.1:p.Pro275Leu | |
| NM_004380.3:c.824C>T MANE Select | NP_004371.2:p.Pro275Leu |