Linked Data
ClinVar Variation Id:
2167735
ClinVar RCV Id:
RCV003092198
dbSNP Id:
rs781523834
ExAC:
18:21140247 T / C
gnomAD v2:
18-21140247-T-C
gnomAD v3:
18-23560283-T-C
gnomAD v4:
18-23560283-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23560283T>C , CM000680.2:g.23560283T>C | GRCh38 |
| NC_000018.9:g.21140247T>C , CM000680.1:g.21140247T>C | GRCh37 |
| NC_000018.8:g.19394245T>C | NCBI36 |
| NG_012795.1:g.31335A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269228.10:c.829A>G MANE Select | ENSP00000269228.4:p.Met277Val | |
| ENST00000269228.9:c.829A>G | ENSP00000269228.4:p.Met277Val | |
| ENST00000540608.5:n.743A>G | ||
| ENST00000591051.1:c.60A>G | ||
| NM_000271.4:c.829A>G | NP_000262.2:p.Met277Val | |
| XM_005258277.1:c.829A>G | XP_005258334.1:p.Met277Val | |
| XM_005258278.3:c.829A>G | XP_005258335.1:p.Met277Val | |
| XM_005258279.1:c.829A>G | XP_005258336.1:p.Met277Val | |
| XM_006722479.2:c.829A>G | XP_006722542.1:p.Met277Val | |
| XM_011526015.1:c.364A>G | XP_011524317.1:p.Met122Val | |
| XM_005258278.5:c.829A>G | XP_005258335.1:p.Met277Val | |
| XM_005258279.2:c.829A>G | XP_005258336.1:p.Met277Val | |
| XM_006722479.3:c.829A>G | XP_006722542.1:p.Met277Val | |
| XM_017025784.1:c.829A>G | XP_016881273.1:p.Met277Val | |
| XM_017025785.1:c.829A>G | XP_016881274.1:p.Met277Val | |
| XM_017025786.1:c.829A>G | XP_016881275.1:p.Met277Val | |
| XM_017025787.1:c.829A>G | XP_016881276.1:p.Met277Val | |
| NM_000271.5:c.829A>G MANE Select | NP_000262.2:p.Met277Val |