Linked Data
dbSNP Id:
rs375318394
ExAC:
2:241818169 C / A
gnomAD v2:
2-241818169-C-A
gnomAD v4:
2-240878752-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240878752C>A , CM000664.2:g.240878752C>A | GRCh38 |
| NC_000002.11:g.241818169C>A , CM000664.1:g.241818169C>A | GRCh37 |
| NC_000002.10:g.241466842C>A | NCBI36 |
| NG_008005.1:g.15008C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.1110C>A MANE Select | ENSP00000302620.3:p.Arg370= | |
| ENST00000307503.3:c.1110C>A | ENSP00000302620.3:p.Arg370= | |
| ENST00000470255.1:n.888C>A | ||
| NM_000030.2:c.1110C>A | NP_000021.1:p.Arg370= | |
| NM_000030.3:c.1110C>A MANE Select | NP_000021.1:p.Arg370= |