Linked Data
ClinVar Variation Id:
302167
ClinVar RCV Id:
RCV000316795
dbSNP Id:
rs184691110
ExAC:
11:10516569 A / G
gnomAD v2:
11-10516569-A-G
gnomAD v3:
11-10495022-A-G
gnomAD v4:
11-10495022-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10495022A>G , CM000673.2:g.10495022A>G | GRCh38 |
| NC_000011.9:g.10516569A>G , CM000673.1:g.10516569A>G | GRCh37 |
| NC_000011.8:g.10473145A>G | NCBI36 |
| NG_012041.1:g.49346A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396553.7:c.1258A>G MANE Select | ENSP00000379801.2:p.Met420Val | |
| ENST00000396553.6:c.1258A>G | ENSP00000379801.2:p.Met420Val | |
| ENST00000396554.7:c.1285A>G | ENSP00000379802.3:p.Met429Val | |
| ENST00000444303.6:c.781A>G | ENSP00000396000.2:p.Met261Val | |
| ENST00000528723.5:c.1279A>G | ENSP00000436987.1:p.Met427Val | |
| ENST00000529507.5:c.1258A>G | ENSP00000431648.1:p.Met420Val | |
| ENST00000529834.5:c.1258A>G | ENSP00000435382.1:p.Met420Val | |
| ENST00000533116.1:c.460A>G | ENSP00000433351.1:n.460A>G | |
| ENST00000534047.5:c.*560A>G | ENSP00000433937.1:n.*560A>G | |
| NM_000480.2:c.1285A>G | NP_000471.1:p.Met429Val | |
| NM_001025389.1:c.1258A>G | NP_001020560.1:p.Met420Val | |
| NM_001025390.1:c.1279A>G | NP_001020561.1:p.Met427Val | |
| NM_001172430.1:c.1258A>G | NP_001165901.1:p.Met420Val | |
| NM_001172431.1:c.781A>G | NP_001165902.1:p.Met261Val | |
| NM_000480.3:c.1285A>G | NP_000471.1:p.Met429Val | |
| NM_001025389.2:c.1258A>G MANE Select | NP_001020560.1:p.Met420Val | |
| NM_001025390.2:c.1279A>G | NP_001020561.1:p.Met427Val | |
| NM_001172431.2:c.781A>G | NP_001165902.1:p.Met261Val |