Linked Data
dbSNP Id:
rs1596074758
gnomAD v4:
15-90088701-C-T
MyVariant Identifiers:
chr15:g.90631933C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90088701C>T , CM000677.2:g.90088701C>T | GRCh38 |
| NC_000015.9:g.90631933C>T , CM000677.1:g.90631933C>T | GRCh37 |
| NC_000015.8:g.88432937C>T | NCBI36 |
| NG_023302.1:g.18776G>A , LRG_611:g.18776G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330062.8:c.420G>A MANE Select | ENSP00000331897.4:p.Arg140= | |
| ENST00000330062.7:c.420G>A | ENSP00000331897.3:p.Arg140= | |
| ENST00000540499.2:c.264G>A | ENSP00000446147.2:p.Arg88= | |
| ENST00000559482.5:c.208-199G>A | ENSP00000453016.1:n.208-199G>A | |
| ENST00000560061.1:c.*45G>A | ENSP00000453254.1:n.*45G>A | |
| NM_001289910.1:c.264G>A , LRG_611t1:c.264G>A | NP_001276839.1:p.Arg88= | |
| NM_001290114.1:c.30G>A | NP_001277043.1:p.Arg10= | |
| NM_002168.3:c.420G>A , LRG_611t2:c.420G>A | NP_002159.2:p.Arg140= | |
| NM_001290114.2:c.30G>A | NP_001277043.1:p.Arg10= | |
| NM_002168.4:c.420G>A MANE Select | NP_002159.2:p.Arg140= |