Linked Data
dbSNP Id:
rs765405040
ExAC:
2:241808362 G / T
gnomAD v2:
2-241808362-G-T
gnomAD v4:
2-240868945-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868945G>T , CM000664.2:g.240868945G>T | GRCh38 |
| NC_000002.11:g.241808362G>T , CM000664.1:g.241808362G>T | GRCh37 |
| NC_000002.10:g.241457035G>T | NCBI36 |
| NG_008005.1:g.5201G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.80G>T MANE Select | ENSP00000302620.3:p.Gly27Val | |
| ENST00000307503.3:c.80G>T | ENSP00000302620.3:p.Gly27Val | |
| ENST00000472436.1:n.100G>T | ||
| NM_000030.2:c.80G>T | NP_000021.1:p.Gly27Val | |
| XR_924060.1:n.405+1288C>A | ||
| NM_000030.3:c.80G>T MANE Select | NP_000021.1:p.Gly27Val |