Linked Data
dbSNP Id:
rs780905277
ExAC:
2:241808395 T / G
gnomAD v2:
2-241808395-T-G
gnomAD v4:
2-240868978-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240868978T>G , CM000664.2:g.240868978T>G | GRCh38 |
| NC_000002.11:g.241808395T>G , CM000664.1:g.241808395T>G | GRCh37 |
| NC_000002.10:g.241457068T>G | NCBI36 |
| NG_008005.1:g.5234T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.113T>G MANE Select | ENSP00000302620.3:p.Met38Arg | |
| ENST00000307503.3:c.113T>G | ENSP00000302620.3:p.Met38Arg | |
| ENST00000472436.1:n.133T>G | ||
| NM_000030.2:c.113T>G | NP_000021.1:p.Met38Arg | |
| XR_924060.1:n.405+1255A>C | ||
| NM_000030.3:c.113T>G MANE Select | NP_000021.1:p.Met38Arg |