Linked Data
ClinVar Variation Id:
3958
ClinVar RCV Id:
RCV000004164
dbSNP Id:
rs121907946
gnomAD v4:
6-53507001-T-A
PubMed:
PMID:10515893
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53507001T>A , CM000668.2:g.53507001T>A | GRCh38 |
| NC_000006.11:g.53371799T>A , CM000668.1:g.53371799T>A | GRCh37 |
| NC_000006.10:g.53479758T>A | NCBI36 |
| NG_012071.1:g.43033A>T | |
| NG_012071.2:g.43129A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000513939.6:c.995A>T | ENSP00000424211.2:p.His332Leu | |
| ENST00000616923.5:c.950A>T | ENSP00000482756.2:p.His317Leu | |
| ENST00000643939.1:c.1115A>T | ENSP00000495686.1:p.His372Leu | |
| ENST00000650454.1:c.1109A>T MANE Select | ENSP00000497574.1:p.His370Leu | |
| ENST00000229416.10:c.1109A>T | ENSP00000229416.6:p.His370Leu | |
| ENST00000504353.1:n.78A>T | ||
| ENST00000509541.5:n.1554A>T | ||
| ENST00000616923.4:c.995A>T | ENSP00000482756.1:p.His332Leu | |
| NM_001197115.1:c.995A>T | NP_001184044.1:p.His332Leu | |
| NM_001498.3:c.1109A>T | NP_001489.1:p.His370Leu | |
| NM_001498.4:c.1109A>T MANE Select | NP_001489.1:p.His370Leu | |
| XM_017010749.1:c.398A>T | XP_016866238.1:p.His133Leu | |
| NM_001197115.2:c.995A>T | NP_001184044.1:p.His332Leu |