MyVariant.info:
GRCh37
chr2:g.38298000C>T
gnomAD v4:
Joint Max Group AF
0.00002547 (AFR)
Exomes Max Group AF
0.00005849 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38070857C>T , CM000664.2:g.38070857C>T | GRCh38 |
| NC_000002.11:g.38298000C>T , CM000664.1:g.38298000C>T | GRCh37 |
| NC_000002.10:g.38151504C>T | NCBI36 |
| NG_008386.2:g.10245G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.1497G>A | ENSP00000478839.2:p.Glu499= | |
| ENST00000610745.5:c.1497G>A MANE Select | ENSP00000478561.1:p.Glu499= | |
| ENST00000494864.1:c.384G>A | ENSP00000479876.1:p.Glu128= | |
| ENST00000610745.4:c.1497G>A | ENSP00000478561.1:p.Glu499= | |
| ENST00000614273.1:c.1497G>A | ENSP00000483678.1:p.Glu499= | |
| NM_000104.3:c.1497G>A | NP_000095.2:p.Glu499= | |
| NM_000104.4:c.1497G>A MANE Select | NP_000095.2:p.Glu499= |