Linked Data
ClinVar Variation Id:
220768
ClinVar RCV Id:
RCV000205675
dbSNP Id:
rs567550044
ExAC:
1:173878848 G / A
gnomAD v2:
1-173878848-G-A
gnomAD v3:
1-173909710-G-A
gnomAD v4:
1-173909710-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909710G>A , CM000663.2:g.173909710G>A | GRCh38 |
| NC_000001.10:g.173878848G>A , CM000663.1:g.173878848G>A | GRCh37 |
| NC_000001.9:g.172145471G>A | NCBI36 |
| NG_012462.1:g.12669C>T , LRG_577:g.12669C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.995C>T MANE Select | ENSP00000356671.3:p.Thr332Ile | |
| ENST00000367698.3:c.995C>T | ENSP00000356671.3:p.Thr332Ile | |
| ENST00000617423.4:c.559+2154C>T | ENSP00000478688.1:n.559+2154C>T | |
| NM_000488.3:c.995C>T , LRG_577t1:c.995C>T | NP_000479.1:p.Thr332Ile | |
| XM_005245198.2:c.851C>T | XP_005245255.1:p.Thr284Ile | |
| NM_001365052.1:c.851C>T | NP_001351981.1:p.Thr284Ile | |
| NM_000488.4:c.995C>T MANE Select | NP_000479.1:p.Thr332Ile | |
| NM_001365052.2:c.851C>T | NP_001351981.1:p.Thr284Ile | |
| NM_001386302.1:c.1118C>T | NP_001373231.1:p.Thr373Ile | |
| NM_001386303.1:c.1076C>T | NP_001373232.1:p.Thr359Ile | |
| NM_001386304.1:c.974C>T | NP_001373233.1:p.Thr325Ile | |
| NM_001386305.1:c.938C>T | NP_001373234.1:p.Thr313Ile | |
| NM_001386306.1:c.779C>T | NP_001373235.1:p.Thr260Ile |