Linked Data
dbSNP Id:
rs1279233407
gnomAD v2:
2-47604382-G-T
gnomAD v3:
2-47377243-G-T
gnomAD v4:
2-47377243-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47377243G>T , CM000664.2:g.47377243G>T | GRCh38 |
| NC_000002.11:g.47604382G>T , CM000664.1:g.47604382G>T | GRCh37 |
| NC_000002.10:g.47457886G>T | NCBI36 |
| NG_012352.2:g.37081G>T , LRG_215:g.37081G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.555+166G>T MANE Select | ENSP00000263735.4:n.555+166G>T | |
| ENST00000263735.8:c.555+166G>T | ENSP00000263735.4:n.555+166G>T | |
| ENST00000405271.5:c.639+166G>T | ENSP00000385476.1:n.639+166G>T | |
| ENST00000456133.5:c.639+166G>T | ENSP00000410675.1:n.639+166G>T | |
| ENST00000490733.1:n.404+166G>T | ||
| NM_002354.2:c.555+166G>T , LRG_215t1:c.555+166G>T | NP_002345.2:n.555+166G>T | |
| NM_002354.3:c.555+166G>T MANE Select | NP_002345.2:n.555+166G>T |