Linked Data
dbSNP Id:
rs1447006528
gnomAD v2:
15-90631729-C-A
gnomAD v3:
15-90088497-C-A
gnomAD v4:
15-90088497-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90088497C>A , CM000677.2:g.90088497C>A | GRCh38 |
| NC_000015.9:g.90631729C>A , CM000677.1:g.90631729C>A | GRCh37 |
| NC_000015.8:g.88432733C>A | NCBI36 |
| NG_023302.1:g.18980G>T , LRG_611:g.18980G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330062.8:c.540G>T MANE Select | ENSP00000331897.4:p.Lys180Asn | |
| ENST00000330062.7:c.540G>T | ENSP00000331897.3:p.Lys180Asn | |
| ENST00000540499.2:c.384G>T | ENSP00000446147.2:p.Lys128Asn | |
| ENST00000559482.5:c.213G>T | ENSP00000453016.1:p.Lys71Asn | |
| ENST00000560061.1:c.*165G>T | ENSP00000453254.1:n.*165G>T | |
| NM_001289910.1:c.384G>T , LRG_611t1:c.384G>T | NP_001276839.1:p.Lys128Asn | |
| NM_001290114.1:c.150G>T | NP_001277043.1:p.Lys50Asn | |
| NM_002168.3:c.540G>T , LRG_611t2:c.540G>T | NP_002159.2:p.Lys180Asn | |
| NM_001290114.2:c.150G>T | NP_001277043.1:p.Lys50Asn | |
| NM_002168.4:c.540G>T MANE Select | NP_002159.2:p.Lys180Asn |