Linked Data
dbSNP Id:
rs748165211
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94981207G>T , CM000672.2:g.94981207G>T | GRCh38 |
| NC_000010.10:g.96740964G>T , CM000672.1:g.96740964G>T | GRCh37 |
| NC_000010.9:g.96730954G>T | NCBI36 |
| NG_008385.1:g.47550G>T | |
| NG_008385.2:g.48050G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.986G>T MANE Select | ENSP00000260682.6:p.Arg329Leu | |
| ENST00000643112.1:c.844G>T | ENSP00000496202.1:p.Val282Leu | |
| ENST00000260682.6:c.986G>T | ENSP00000260682.6:p.Arg329Leu | |
| NM_000771.3:c.986G>T | NP_000762.2:p.Arg329Leu | |
| NM_000771.4:c.986G>T MANE Select | NP_000762.2:p.Arg329Leu |