Linked Data
ClinVar Variation Id:
3160464
ClinVar RCV Id:
RCV004453366
dbSNP Id:
rs1351719487
gnomAD v2:
1-173878995-A-G
gnomAD v3:
1-173909857-A-G
gnomAD v4:
1-173909857-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909857A>G , CM000663.2:g.173909857A>G | GRCh38 |
| NC_000001.10:g.173878995A>G , CM000663.1:g.173878995A>G | GRCh37 |
| NC_000001.9:g.172145618A>G | NCBI36 |
| NG_012462.1:g.12522T>C , LRG_577:g.12522T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.848T>C MANE Select | ENSP00000356671.3:p.Met283Thr | |
| ENST00000367698.3:c.848T>C | ENSP00000356671.3:p.Met283Thr | |
| ENST00000487183.1:n.499T>C | ||
| ENST00000617423.4:c.559+2007T>C | ENSP00000478688.1:n.559+2007T>C | |
| NM_000488.3:c.848T>C , LRG_577t1:c.848T>C | NP_000479.1:p.Met283Thr | |
| XM_005245198.2:c.704T>C | XP_005245255.1:p.Met235Thr | |
| NM_001365052.1:c.704T>C | NP_001351981.1:p.Met235Thr | |
| NM_000488.4:c.848T>C MANE Select | NP_000479.1:p.Met283Thr | |
| NM_001365052.2:c.704T>C | NP_001351981.1:p.Met235Thr | |
| NM_001386302.1:c.971T>C | NP_001373231.1:p.Met324Thr | |
| NM_001386303.1:c.929T>C | NP_001373232.1:p.Met310Thr | |
| NM_001386304.1:c.827T>C | NP_001373233.1:p.Met276Thr | |
| NM_001386305.1:c.791T>C | NP_001373234.1:p.Met264Thr | |
| NM_001386306.1:c.632T>C | NP_001373235.1:p.Met211Thr |