Linked Data
ClinVar Variation Id:
2464471
ClinVar RCV Id:
RCV003201947
dbSNP Id:
rs558877093
ExAC:
2:233388533 C / T
gnomAD v2:
2-233388533-C-T
gnomAD v3:
2-232523823-C-T
gnomAD v4:
2-232523823-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232523823C>T , CM000664.2:g.232523823C>T | GRCh38 |
| NC_000002.11:g.233388533C>T , CM000664.1:g.233388533C>T | GRCh37 |
| NC_000002.10:g.233096777C>T | NCBI36 |
| NG_008028.1:g.2612C>T | |
| NG_031969.1:g.8361C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617714.2:c.1064C>T MANE Select | ENSP00000479745.1:p.Pro355Leu | |
| ENST00000449534.6:c.1067C>T | ENSP00000473410.1:p.Pro356Leu | |
| ENST00000617714.1:c.1064C>T | ENSP00000479745.1:p.Pro355Leu | |
| NM_001195129.1:c.1064C>T | NP_001182058.1:p.Pro355Leu | |
| NM_001195129.2:c.1064C>T MANE Select | NP_001182058.1:p.Pro355Leu | |
| NM_001369848.1:c.1067C>T | NP_001356777.1:p.Pro356Leu |