MyVariant.info:
GRCh37
chr19:g.9362343C>A
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.9251667C>A , CM000681.2:g.9251667C>A | GRCh38 |
| NC_000019.9:g.9362343C>A , CM000681.1:g.9362343C>A | GRCh37 |
| NC_000019.8:g.9223343C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456448.3:c.624C>A MANE Select | ENSP00000387523.1:p.Ser208= | |
| ENST00000641946.1:c.612C>A | ENSP00000494223.1:p.Ser204= | |
| ENST00000456448.2:c.624C>A | ENSP00000387523.1:p.Ser208= | |
| NM_001079935.1:c.624C>A | NP_001073404.1:p.Ser208= | |
| NM_001079935.2:c.624C>A MANE Select | NP_001073404.1:p.Ser208= | |
| NM_001386108.1:c.612C>A | NP_001373037.1:p.Ser204= |