Linked Data
ClinVar Variation Id:
377121
ClinVar RCV Id:
RCV000428049
dbSNP Id:
rs74357545
ExAC:
2:178528608 T / C
gnomAD v2:
2-178528608-T-C
gnomAD v3:
2-177663880-T-C
gnomAD v4:
2-177663880-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.177663880T>C , CM000664.2:g.177663880T>C | GRCh38 |
| NC_000002.11:g.178528608T>C , CM000664.1:g.178528608T>C | GRCh37 |
| NC_000002.10:g.178236854T>C | NCBI36 |
| NG_012168.1:g.449459A>G | |
| NG_012168.2:g.449460A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286063.11:c.2632A>G MANE Select | ENSP00000286063.5:p.Met878Val | |
| ENST00000286063.10:c.2632A>G | ENSP00000286063.5:p.Met878Val | |
| ENST00000358450.8:c.1882A>G | ENSP00000351232.4:p.Met628Val | |
| ENST00000389683.7:c.1300A>G | ENSP00000374333.3:p.Met434Val | |
| ENST00000409504.5:c.1558A>G | ENSP00000386539.1:p.Met520Val | |
| ENST00000436700.5:c.239A>G | ||
| ENST00000478646.5:n.168A>G | ||
| ENST00000488399.5:n.386A>G | ||
| NM_001077196.1:c.1300A>G | NP_001070664.1:p.Met434Val | |
| NM_001077197.1:c.1882A>G | NP_001070665.1:p.Met628Val | |
| NM_001077358.1:c.1558A>G | NP_001070826.1:p.Met520Val | |
| NM_016953.3:c.2632A>G | NP_058649.3:p.Met878Val | |
| NM_016953.4:c.2632A>G MANE Select | NP_058649.3:p.Met878Val | |
| NM_001077196.2:c.1300A>G | NP_001070664.1:p.Met434Val | |
| NM_001077197.2:c.1882A>G | NP_001070665.1:p.Met628Val | |
| NM_001077358.2:c.1558A>G | NP_001070826.1:p.Met520Val |