Linked Data
ClinVar Variation Id:
48628
ClinVar RCV Id:
RCV000041954
RCV000674717
RCV001075710
RCV001273702
RCV001388971
RCV001778686
RCV003450911
dbSNP Id:
rs73090721
gnomAD v2:
1-215990450-G-T
gnomAD v4:
1-215817108-G-T
PubMed:
PMID:22135276
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215817108G>T , CM000663.2:g.215817108G>T | GRCh38 |
| NC_000001.10:g.215990450G>T , CM000663.1:g.215990450G>T | GRCh37 |
| NC_000001.9:g.214057073G>T | NCBI36 |
| NG_009497.1:g.611289C>A | |
| NG_009497.2:g.611341C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.9459C>A MANE Select | ENSP00000305941.3:p.Cys3153Ter | |
| ENST00000674083.1:c.9459C>A | ENSP00000501296.1:p.Cys3153Ter | |
| ENST00000307340.7:c.9459C>A | ENSP00000305941.3:p.Cys3153Ter | |
| NM_206933.2:c.9459C>A | NP_996816.2:p.Cys3153Ter | |
| NM_206933.3:c.9459C>A | NP_996816.2:p.Cys3153Ter | |
| NM_206933.4:c.9459C>A MANE Select | NP_996816.3:p.Cys3153Ter |