Linked Data
dbSNP Id:
rs1588169028
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101421886T>G , CM000671.2:g.101421886T>G | GRCh38 |
| NC_000009.11:g.104184168T>G , CM000671.1:g.104184168T>G | GRCh37 |
| NC_000009.10:g.103223989T>G | NCBI36 |
| NG_012387.1:g.18895A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.1018A>C MANE Select | ENSP00000497767.1:p.Lys340Gln | |
| ENST00000648064.1:c.1018A>C | ENSP00000497990.1:p.Lys340Gln | |
| ENST00000648758.1:c.1018A>C | ENSP00000497731.1:p.Lys340Gln | |
| ENST00000374855.8:c.1018A>C | ENSP00000363988.4:p.Lys340Gln | |
| ENST00000616752.1:c.*30A>C | ENSP00000481363.1:n.*30A>C | |
| NM_000035.3:c.1018A>C | NP_000026.2:p.Lys340Gln | |
| NM_000035.4:c.1018A>C MANE Select | NP_000026.2:p.Lys340Gln |