Linked Data
ClinVar Variation Id:
575383
ClinVar RCV Id:
RCV000697582
dbSNP Id:
rs1424776785
gnomAD v3:
3-69119203-C-T
gnomAD v4:
3-69119203-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69119203C>T , CM000665.2:g.69119203C>T | GRCh38 |
| NC_000003.11:g.69168354C>T , CM000665.1:g.69168354C>T | GRCh37 |
| NC_000003.10:g.69251044C>T | NCBI36 |
| NG_041828.1:g.8393G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420581.7:c.1152G>A MANE Select | ENSP00000414670.3:p.Met384Ile | |
| ENST00000420581.6:c.1152G>A | ENSP00000414670.2:p.Met384Ile | |
| ENST00000475434.1:c.1152G>A | ENSP00000418645.1:p.Met384Ile | |
| ENST00000489031.5:c.1152G>A | ENSP00000417210.1:p.Met384Ile | |
| NM_001304418.1:c.1152G>A | NP_001291347.1:p.Met384Ile | |
| NM_198271.4:c.1152G>A | NP_938012.2:p.Met384Ile | |
| NM_001304418.3:c.1152G>A | NP_001291347.1:p.Met384Ile | |
| NM_198271.5:c.1152G>A MANE Select | NP_938012.2:p.Met384Ile |