CIViC:
ClinVar RCV:
ClinVar Variation:
COSMIC:
dbSNP:
Revel Score:
ENST00000444970
0.747
ENST00000372348
0.747
ENST00000318560 (MANE Select)
0.747
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130873028T>G , CM000671.2:g.130873028T>G | GRCh38 |
| NC_000009.11:g.133748415T>G , CM000671.1:g.133748415T>G | GRCh37 |
| NC_000009.10:g.132738236T>G | NCBI36 |
| NG_012034.1:g.164148T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.1133T>G | ENSP00000361423.2:p.Phe378Cys | |
| ENST00000318560.6:c.1076T>G MANE Select | ENSP00000323315.5:p.Phe359Cys | |
| ENST00000372348.7:c.1133T>G | ENSP00000361423.2:p.Phe378Cys | |
| ENST00000318560.5:c.1076T>G | ENSP00000323315.5:p.Phe359Cys | |
| ENST00000372348.6:c.1133T>G | ENSP00000361423.2:p.Phe378Cys | |
| NM_005157.5:c.1076T>G | NP_005148.2:p.Phe359Cys | |
| NM_007313.2:c.1133T>G | NP_009297.2:p.Phe378Cys | |
| NM_005157.6:c.1076T>G MANE Select | NP_005148.2:p.Phe359Cys | |
| NM_007313.3:c.1133T>G | NP_009297.2:p.Phe378Cys |