Linked Data
dbSNP Id:
rs1057519736
gnomAD v4:
15-90088605-C-T
COSMIC:
COSM99760
MyVariant Identifiers:
chr15:g.90631837C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90088605C>T , CM000677.2:g.90088605C>T | GRCh38 |
| NC_000015.9:g.90631837C>T , CM000677.1:g.90631837C>T | GRCh37 |
| NC_000015.8:g.88432841C>T | NCBI36 |
| NG_023302.1:g.18872G>A , LRG_611:g.18872G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330062.8:c.516G>A MANE Select | ENSP00000331897.4:p.Arg172= | |
| ENST00000330062.7:c.516G>A | ENSP00000331897.3:p.Arg172= | |
| ENST00000540499.2:c.360G>A | ENSP00000446147.2:p.Arg120= | |
| ENST00000559482.5:c.208-103G>A | ENSP00000453016.1:n.208-103G>A | |
| ENST00000560061.1:c.*141G>A | ENSP00000453254.1:n.*141G>A | |
| NM_001289910.1:c.360G>A , LRG_611t1:c.360G>A | NP_001276839.1:p.Arg120= | |
| NM_001290114.1:c.126G>A | NP_001277043.1:p.Arg42= | |
| NM_002168.3:c.516G>A , LRG_611t2:c.516G>A | NP_002159.2:p.Arg172= | |
| NM_001290114.2:c.126G>A | NP_001277043.1:p.Arg42= | |
| NM_002168.4:c.516G>A MANE Select | NP_002159.2:p.Arg172= |