Linked Data
ClinVar Variation Id:
441107
ClinVar RCV Id:
RCV000509180
RCV000513618
RCV000764515
RCV000704354
RCV001149608
RCV003403196
RCV004535645
dbSNP Id:
rs62267114
ExAC:
3:81810654 C / T
gnomAD v2:
3-81810654-C-T
gnomAD v3:
3-81761503-C-T
gnomAD v4:
3-81761503-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81761503C>T , CM000665.2:g.81761503C>T | GRCh38 |
| NC_000003.11:g.81810654C>T , CM000665.1:g.81810654C>T | GRCh37 |
| NC_000003.10:g.81893344C>T | NCBI36 |
| NG_011810.1:g.5298G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.15G>A MANE Select | ENSP00000410833.2:p.Met5Ile | |
| ENST00000429644.6:c.15G>A | ENSP00000410833.2:p.Met5Ile | |
| NM_000158.3:c.15G>A | NP_000149.3:p.Met5Ile | |
| NM_000158.4:c.15G>A MANE Select | NP_000149.4:p.Met5Ile |