Linked Data
dbSNP Id:
rs1900944548
gnomAD v4:
15-90088698-G-A
MyVariant Identifiers:
chr15:g.90631930G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90088698G>A , CM000677.2:g.90088698G>A | GRCh38 |
| NC_000015.9:g.90631930G>A , CM000677.1:g.90631930G>A | GRCh37 |
| NC_000015.8:g.88432934G>A | NCBI36 |
| NG_023302.1:g.18779C>T , LRG_611:g.18779C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330062.8:c.423C>T MANE Select | ENSP00000331897.4:p.Asn141= | |
| ENST00000330062.7:c.423C>T | ENSP00000331897.3:p.Asn141= | |
| ENST00000540499.2:c.267C>T | ENSP00000446147.2:p.Asn89= | |
| ENST00000559482.5:c.208-196C>T | ENSP00000453016.1:n.208-196C>T | |
| ENST00000560061.1:c.*48C>T | ENSP00000453254.1:n.*48C>T | |
| NM_001289910.1:c.267C>T , LRG_611t1:c.267C>T | NP_001276839.1:p.Asn89= | |
| NM_001290114.1:c.33C>T | NP_001277043.1:p.Asn11= | |
| NM_002168.3:c.423C>T , LRG_611t2:c.423C>T | NP_002159.2:p.Asn141= | |
| NM_001290114.2:c.33C>T | NP_001277043.1:p.Asn11= | |
| NM_002168.4:c.423C>T MANE Select | NP_002159.2:p.Asn141= |