Linked Data
ClinVar Variation Id:
376123
ClinVar RCV Id:
RCV000434412
dbSNP Id:
rs121913452
PubMed:
PMID:21562040
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130873027T>C , CM000671.2:g.130873027T>C | GRCh38 |
| NC_000009.11:g.133748414T>C , CM000671.1:g.133748414T>C | GRCh37 |
| NC_000009.10:g.132738235T>C | NCBI36 |
| NG_012034.1:g.164147T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000372348.9:c.1132T>C | ENSP00000361423.2:p.Phe378Leu | |
| ENST00000318560.6:c.1075T>C MANE Select | ENSP00000323315.5:p.Phe359Leu | |
| ENST00000372348.7:c.1132T>C | ENSP00000361423.2:p.Phe378Leu | |
| ENST00000318560.5:c.1075T>C | ENSP00000323315.5:p.Phe359Leu | |
| ENST00000372348.6:c.1132T>C | ENSP00000361423.2:p.Phe378Leu | |
| NM_005157.5:c.1075T>C | NP_005148.2:p.Phe359Leu | |
| NM_007313.2:c.1132T>C | NP_009297.2:p.Phe378Leu | |
| NM_005157.6:c.1075T>C MANE Select | NP_005148.2:p.Phe359Leu | |
| NM_007313.3:c.1132T>C | NP_009297.2:p.Phe378Leu |