Linked Data
ClinVar Variation Id:
21157
dbSNP Id:
rs80338960
gnomAD v2:
17-62020366-T-C
gnomAD v4:
17-63943006-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63943006T>C , CM000679.2:g.63943006T>C | GRCh38 |
| NC_000017.10:g.62020366T>C , CM000679.1:g.62020366T>C | GRCh37 |
| NC_000017.9:g.59374098T>C | NCBI36 |
| NG_011699.1:g.34913A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000435607.3:c.4108A>G MANE Select | ENSP00000396320.1:p.Met1370Val | |
| ENST00000578147.5:c.4108A>G | ENSP00000463963.1:p.Met1370Val | |
| NM_000334.4:c.4108A>G MANE Select | NP_000325.4:p.Met1370Val | |
| XM_005257566.3:c.4108A>G | XP_005257623.1:p.Met1370Val |