Linked Data
ClinVar Variation Id:
995
dbSNP Id:
rs104894132
ExAC:
9:100437861 G / A
gnomAD v2:
9-100437861-G-A
gnomAD v3:
9-97675579-G-A
gnomAD v4:
9-97675579-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97675579G>A , CM000671.2:g.97675579G>A | GRCh38 |
| NC_000009.11:g.100437861G>A , CM000671.1:g.100437861G>A | GRCh37 |
| NC_000009.10:g.99477682G>A | NCBI36 |
| NG_011642.1:g.26831C>T , LRG_471:g.26831C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.682C>T MANE Select | ENSP00000364270.5:p.Arg228Ter | |
| ENST00000375128.4:c.682C>T | ENSP00000364270.4:p.Arg228Ter | |
| ENST00000462523.5:c.*118C>T | ENSP00000433006.1:n.*118C>T | |
| ENST00000485042.1:n.194C>T | ||
| NM_000380.3:c.682C>T , LRG_471t1:c.682C>T | NP_000371.1:p.Arg228Ter | |
| NR_027302.1:n.1030C>T | ||
| XM_006717278.1:c.682C>T | XP_006717341.1:p.Arg228Ter | |
| XM_011518988.1:c.682C>T | XP_011517290.1:p.Arg228Ter | |
| XR_929839.1:n.1213C>T | ||
| NM_001354975.1:c.556C>T | NP_001341904.1:p.Arg186Ter | |
| NR_149091.1:n.527C>T | ||
| NR_149092.1:n.693C>T | ||
| NR_149093.1:n.1219C>T | ||
| NR_149094.1:n.1113C>T | ||
| NM_000380.4:c.682C>T MANE Select | NP_000371.1:p.Arg228Ter | |
| NM_001354975.2:c.556C>T | NP_001341904.1:p.Arg186Ter | |
| NR_027302.2:n.961C>T | ||
| NR_149091.2:n.458C>T | ||
| NR_149092.2:n.624C>T | ||
| NR_149093.2:n.1150C>T | ||
| NR_149094.2:n.1044C>T |