Linked Data
ClinVar Variation Id:
924401
ClinVar RCV Id:
RCV001185691
dbSNP Id:
rs2095877823
gnomAD v4:
11-47332200-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47332200A>T , CM000673.2:g.47332200A>T | GRCh38 |
| NC_000011.9:g.47353751A>T , CM000673.1:g.47353751A>T | GRCh37 |
| NC_000011.8:g.47310327A>T | NCBI36 |
| NG_007667.1:g.25503T>A , LRG_386:g.25503T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545968.6:c.3686T>A MANE Select | ENSP00000442795.1:p.Met1229Lys | |
| ENST00000256993.8:c.3686T>A | ENSP00000256993.5:p.Met1229Lys | |
| ENST00000399249.6:c.3686T>A | ENSP00000382193.2:p.Met1229Lys | |
| ENST00000545968.5:c.3686T>A | ENSP00000442795.1:p.Met1229Lys | |
| NM_000256.3:c.3686T>A , LRG_386t1:c.3686T>A MANE Select | NP_000247.2:p.Met1229Lys | |
| XM_011520117.1:c.3668T>A | XP_011518419.1:p.Met1223Lys | |
| XM_011520118.1:c.3605T>A | XP_011518420.1:p.Met1202Lys |