Linked Data
dbSNP Id:
rs2148178722
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227069C>A , CM000664.2:g.29227069C>A | GRCh38 |
| NC_000002.11:g.29449935C>A , CM000664.1:g.29449935C>A | GRCh37 |
| NC_000002.10:g.29303439C>A | NCBI36 |
| NG_009445.1:g.699498G>T , LRG_488:g.699498G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2920G>T MANE Select | ENSP00000373700.3:p.Glu974Ter | |
| ENST00000431873.6:c.86G>T | ||
| ENST00000389048.7:c.2920G>T | ENSP00000373700.3:p.Glu974Ter | |
| ENST00000618119.4:c.1789G>T | ENSP00000482733.1:p.Glu597Ter | |
| NM_004304.4:c.2920G>T | NP_004295.2:p.Glu974Ter | |
| XM_024452778.1:c.73G>T | XP_024308546.1:p.Glu25Ter | |
| XR_001738688.2:n.3776G>T | ||
| NM_004304.5:c.2920G>T MANE Select | NP_004295.2:p.Glu974Ter |