Linked Data
dbSNP Id:
rs2151549634
gnomAD v4:
15-90088644-G-T
MyVariant Identifiers:
chr15:g.90631876G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90088644G>T , CM000677.2:g.90088644G>T | GRCh38 |
| NC_000015.9:g.90631876G>T , CM000677.1:g.90631876G>T | GRCh37 |
| NC_000015.8:g.88432880G>T | NCBI36 |
| NG_023302.1:g.18833C>A , LRG_611:g.18833C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330062.8:c.477C>A MANE Select | ENSP00000331897.4:p.Arg159= | |
| ENST00000330062.7:c.477C>A | ENSP00000331897.3:p.Arg159= | |
| ENST00000540499.2:c.321C>A | ENSP00000446147.2:p.Arg107= | |
| ENST00000559482.5:c.208-142C>A | ENSP00000453016.1:n.208-142C>A | |
| ENST00000560061.1:c.*102C>A | ENSP00000453254.1:n.*102C>A | |
| NM_001289910.1:c.321C>A , LRG_611t1:c.321C>A | NP_001276839.1:p.Arg107= | |
| NM_001290114.1:c.87C>A | NP_001277043.1:p.Arg29= | |
| NM_002168.3:c.477C>A , LRG_611t2:c.477C>A | NP_002159.2:p.Arg159= | |
| NM_001290114.2:c.87C>A | NP_001277043.1:p.Arg29= | |
| NM_002168.4:c.477C>A MANE Select | NP_002159.2:p.Arg159= |