Linked Data
ClinVar Variation Id:
14772
ClinVar RCV Id:
RCV000015895
dbSNP Id:
rs121912449
gnomAD v2:
21-33040881-T-C
PubMed:
PMID:8682505
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31668568T>C , CM000683.2:g.31668568T>C | GRCh38 |
| NC_000021.8:g.33040881T>C , CM000683.1:g.33040881T>C | GRCh37 |
| NC_000021.7:g.31962752T>C | NCBI36 |
| NG_008689.1:g.13947T>C , LRG_652:g.13947T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.455T>C MANE Select | ENSP00000270142.7:p.Ile152Thr | |
| ENST00000270142.10:c.455T>C | ENSP00000270142.6:p.Ile152Thr | |
| ENST00000389995.4:c.398T>C | ENSP00000374645.4:p.Ile133Thr | |
| ENST00000470944.1:n.1383T>C | ||
| NM_000454.4:c.455T>C , LRG_652t1:c.455T>C | NP_000445.1:p.Ile152Thr | |
| NM_000454.5:c.455T>C MANE Select | NP_000445.1:p.Ile152Thr |