Linked Data
ClinVar Variation Id:
239138
dbSNP Id:
rs374563131
ExAC:
2:47596650 G / T
gnomAD v2:
2-47596650-G-T
gnomAD v3:
2-47369511-G-T
gnomAD v4:
2-47369511-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47369511G>T , CM000664.2:g.47369511G>T | GRCh38 |
| NC_000002.11:g.47596650G>T , CM000664.1:g.47596650G>T | GRCh37 |
| NC_000002.10:g.47450154G>T | NCBI36 |
| NG_012352.2:g.29349G>T , LRG_215:g.29349G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.6G>T MANE Select | ENSP00000263735.4:p.Ala2= | |
| ENST00000263735.8:c.6G>T | ENSP00000263735.4:p.Ala2= | |
| ENST00000405271.5:c.160+276G>T | ENSP00000385476.1:n.160+276G>T | |
| ENST00000419334.1:c.6G>T | ENSP00000389028.1:p.Ala2= | |
| ENST00000456133.5:c.160+276G>T | ENSP00000410675.1:n.160+276G>T | |
| ENST00000474691.1:n.37G>T | ||
| NM_002354.2:c.6G>T , LRG_215t1:c.6G>T | NP_002345.2:p.Ala2= | |
| NM_002354.3:c.6G>T MANE Select | NP_002345.2:p.Ala2= |