Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869175G= , CM000664.2:g.240869175G= | GRCh38 |
| NC_000002.11:g.241808592G= , CM000664.1:g.241808592G= | GRCh37 |
| NC_000002.10:g.241457265G= | NCBI36 |
| NG_008005.1:g.5431G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.171G= MANE Select | ENSP00000302620.3:p.Met57= | |
| ENST00000307503.3:c.171G= | ENSP00000302620.3:p.Met57= | |
| ENST00000472436.1:n.191G= | ||
| NM_000030.2:c.171G= | NP_000021.1:p.Met57= | |
| XR_924060.1:n.405+1058C= | ||
| NM_000030.3:c.171G= MANE Select | NP_000021.1:p.Met57= |