Linked Data
dbSNP Id:
rs764625301
ExAC:
2:241813518 G / A
gnomAD v2:
2-241813518-G-A
gnomAD v4:
2-240874101-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240874101G>A , CM000664.2:g.240874101G>A | GRCh38 |
| NC_000002.11:g.241813518G>A , CM000664.1:g.241813518G>A | GRCh37 |
| NC_000002.10:g.241462191G>A | NCBI36 |
| NG_008005.1:g.10357G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.680+39G>A MANE Select | ENSP00000302620.3:n.680+39G>A | |
| ENST00000307503.3:c.680+39G>A | ENSP00000302620.3:n.680+39G>A | |
| ENST00000476698.1:n.333-1008G>A | ||
| NM_000030.2:c.680+39G>A | NP_000021.1:n.680+39G>A | |
| NM_000030.3:c.680+39G>A MANE Select | NP_000021.1:n.680+39G>A |