Linked Data
ClinVar Variation Id:
362032
dbSNP Id:
rs368061370
ExAC:
8:134254315 C / T
gnomAD v2:
8-134254315-C-T
gnomAD v3:
8-133242072-C-T
gnomAD v4:
8-133242072-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133242072C>T , CM000670.2:g.133242072C>T | GRCh38 |
| NC_000008.10:g.134254315C>T , CM000670.1:g.134254315C>T | GRCh37 |
| NC_000008.9:g.134323497C>T | NCBI36 |
| NG_007943.1:g.60184G>A , LRG_258:g.60184G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323851.13:c.894G>A MANE Select | ENSP00000319977.8:p.Pro298= | |
| ENST00000537882.3:c.894G>A | ENSP00000437443.2:p.Pro298= | |
| ENST00000323851.11:c.894G>A | ENSP00000319977.7:p.Pro298= | |
| ENST00000414097.6:c.894G>A | ENSP00000404854.2:p.Pro298= | |
| ENST00000517599.5:c.*500G>A | ENSP00000429172.1:n.*500G>A | |
| ENST00000518066.5:c.37-16G>A | ENSP00000431057.1:n.37-16G>A | |
| ENST00000518176.5:c.135G>A | ENSP00000429007.1:p.Pro45= | |
| ENST00000519278.5:n.1990G>A | ||
| ENST00000521026.5:n.152G>A | ||
| ENST00000521414.5:n.356G>A | ||
| ENST00000522476.5:c.696G>A | ENSP00000427894.1:p.Pro232= | |
| ENST00000522665.5:n.217G>A | ||
| ENST00000523642.1:n.309G>A | ||
| ENST00000537882.2:c.651G>A | ENSP00000437443.1:p.Pro217= | |
| NM_001135242.1:c.894G>A | NP_001128714.1:p.Pro298= | |
| NM_001258432.1:c.696G>A | NP_001245361.1:p.Pro232= | |
| NM_001258433.1:c.651G>A | NP_001245362.1:p.Pro217= | |
| NM_006096.3:c.894G>A , LRG_258t1:c.894G>A | NP_006087.2:p.Pro298= | |
| XM_011516791.1:c.945G>A | XP_011515093.1:p.Pro315= | |
| XM_011516792.1:c.327G>A | XP_011515094.1:p.Pro109= | |
| XM_011516792.2:c.327G>A | XP_011515094.1:p.Pro109= | |
| NM_001135242.2:c.894G>A | NP_001128714.1:p.Pro298= | |
| NM_001258432.2:c.696G>A | NP_001245361.1:p.Pro232= | |
| NM_001258433.2:c.651G>A | NP_001245362.1:p.Pro217= | |
| NM_001374844.1:c.945G>A | NP_001361773.1:p.Pro315= | |
| NM_001374845.1:c.894G>A | NP_001361774.1:p.Pro298= | |
| NM_001374846.1:c.894G>A | NP_001361775.1:p.Pro298= | |
| NM_001374847.1:c.696G>A | NP_001361776.1:p.Pro232= | |
| NM_006096.4:c.894G>A MANE Select | NP_006087.2:p.Pro298= |