Linked Data
dbSNP Id:
rs1935961172
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946106A>T , CM000665.2:g.138946106A>T | GRCh38 |
| NC_000003.11:g.138664948A>T , CM000665.1:g.138664948A>T | GRCh37 |
| NC_000003.10:g.140147638A>T | NCBI36 |
| NG_012454.1:g.6035T>A | |
| NG_029796.1:g.3873A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.617T>A MANE Select | ENSP00000497217.1:p.Leu206Gln | |
| ENST00000330315.3:c.617T>A | ENSP00000333188.3:p.Leu206Gln | |
| NM_023067.3:c.617T>A | NP_075555.1:p.Leu206Gln | |
| NM_023067.4:c.617T>A MANE Select | NP_075555.1:p.Leu206Gln |