Linked Data
ClinVar Variation Id:
2462721
ClinVar RCV Id:
RCV003196620
dbSNP Id:
rs760533197
gnomAD v2:
17-76423137-A-T
gnomAD v4:
17-78427056-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.78427056A>T , CM000679.2:g.78427056A>T | GRCh38 |
| NC_000017.10:g.76423137A>T , CM000679.1:g.76423137A>T | GRCh37 |
| NC_000017.9:g.73934732A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389840.7:c.12641T>A MANE Select | ENSP00000374490.6:p.Met4214Lys | |
| ENST00000389840.6:c.12641T>A | ENSP00000374490.6:p.Met4214Lys | |
| ENST00000585328.5:c.12626T>A | ENSP00000465516.1:p.Met4209Lys | |
| ENST00000586052.5:n.5802T>A | ||
| ENST00000586850.1:n.173T>A | ||
| ENST00000590227.5:n.2315T>A | ||
| ENST00000591369.5:c.4243T>A | ||
| ENST00000592192.2:n.284T>A | ||
| NM_173628.3:c.12641T>A | NP_775899.3:p.Met4214Lys | |
| XM_011525416.1:c.12653T>A | XP_011523718.1:p.Met4218Lys | |
| XM_011525418.1:c.6020T>A | XP_011523720.1:p.Met2007Lys | |
| XM_011525416.2:c.12653T>A | XP_011523718.1:p.Met4218Lys | |
| XM_017025261.2:c.5987T>A | XP_016880750.1:p.Met1996Lys | |
| XM_024451013.1:c.12509T>A | XP_024306781.1:p.Met4170Lys | |
| NM_173628.4:c.12641T>A MANE Select | NP_775899.3:p.Met4214Lys |