Linked Data
dbSNP Id:
rs773557969
ExAC:
10:121431870 G / T
gnomAD v2:
10-121431870-G-T
gnomAD v4:
10-119672358-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119672358G>T , CM000672.2:g.119672358G>T | GRCh38 |
| NC_000010.10:g.121431870G>T , CM000672.1:g.121431870G>T | GRCh37 |
| NC_000010.9:g.121421860G>T | NCBI36 |
| NG_016125.1:g.25989G>T , LRG_742:g.25989G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.611G>T MANE Select | ENSP00000358081.4:p.Gly204Val | |
| ENST00000369085.7:c.611G>T | ENSP00000358081.3:p.Gly204Val | |
| ENST00000450186.1:c.437G>T | ENSP00000410036.1:p.Gly146Val | |
| NM_004281.3:c.611G>T , LRG_742t1:c.611G>T | NP_004272.2:p.Gly204Val | |
| XM_005270287.1:c.611G>T | XP_005270344.1:p.Gly204Val | |
| XM_005270287.2:c.611G>T | XP_005270344.1:p.Gly204Val | |
| NM_004281.4:c.611G>T MANE Select | NP_004272.2:p.Gly204Val |