Linked Data
dbSNP Id:
rs2148178729
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29227071A>T , CM000664.2:g.29227071A>T | GRCh38 |
| NC_000002.11:g.29449937A>T , CM000664.1:g.29449937A>T | GRCh37 |
| NC_000002.10:g.29303441A>T | NCBI36 |
| NG_009445.1:g.699496T>A , LRG_488:g.699496T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.2918T>A MANE Select | ENSP00000373700.3:p.Met973Lys | |
| ENST00000431873.6:c.84T>A | ||
| ENST00000389048.7:c.2918T>A | ENSP00000373700.3:p.Met973Lys | |
| ENST00000618119.4:c.1787T>A | ENSP00000482733.1:p.Met596Lys | |
| NM_004304.4:c.2918T>A | NP_004295.2:p.Met973Lys | |
| XM_024452778.1:c.71T>A | XP_024308546.1:p.Met24Lys | |
| XR_001738688.2:n.3774T>A | ||
| NM_004304.5:c.2918T>A MANE Select | NP_004295.2:p.Met973Lys |