Linked Data
dbSNP Id:
rs1557203788
gnomAD v2:
X-49957245-G-A
gnomAD v4:
X-50192594-G-A
COSMIC:
COSM2149655
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50192594G>A , CM000685.2:g.50192594G>A | GRCh38 |
| NC_000023.10:g.49957245G>A , CM000685.1:g.49957245G>A | GRCh37 |
| NC_000023.9:g.49843985G>A | NCBI36 |
| NG_012552.1:g.13420C>T | |
| NG_012552.2:g.13420C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358526.7:c.2119C>T MANE Select | ENSP00000351327.2:p.Leu707Phe | |
| ENST00000358526.6:c.2119C>T | ENSP00000351327.2:p.Leu707Phe | |
| ENST00000376064.7:c.2092C>T | ENSP00000365232.3:p.Leu698Phe | |
| ENST00000481402.5:n.2231C>T | ||
| NM_003886.2:c.2119C>T | NP_003877.2:p.Leu707Phe | |
| NM_139289.1:c.2092C>T | NP_647450.1:p.Leu698Phe | |
| NM_003886.3:c.2119C>T MANE Select | NP_003877.2:p.Leu707Phe | |
| NM_139289.2:c.2092C>T | NP_647450.1:p.Leu698Phe |