Linked Data
dbSNP Id:
rs750257576
ExAC:
1:24124693 C / A
gnomAD v2:
1-24124693-C-A
gnomAD v4:
1-23798203-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23798203C>A , CM000663.2:g.23798203C>A | GRCh38 |
| NC_000001.10:g.24124693C>A , CM000663.1:g.24124693C>A | GRCh37 |
| NC_000001.9:g.23997280C>A | NCBI36 |
| NG_007068.1:g.7602G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617979.5:c.265G>T MANE Select | ENSP00000483375.1:p.Ala89Ser | |
| ENST00000374497.7:c.265G>T | ENSP00000363621.3:p.Ala89Ser | |
| ENST00000418277.5:c.73G>T | ENSP00000414719.1:p.Ala25Ser | |
| ENST00000425913.5:c.265G>T | ENSP00000393359.1:p.Ala89Ser | |
| ENST00000429356.5:c.73G>T | ENSP00000398585.1:p.Ala25Ser | |
| ENST00000445705.1:c.265G>T | ENSP00000398257.1:p.Ala89Ser | |
| ENST00000459934.5:n.383G>T | ||
| ENST00000467493.5:n.725G>T | ||
| ENST00000470949.5:n.210G>T | ||
| ENST00000481736.5:n.669G>T | ||
| ENST00000486382.1:n.366G>T | ||
| ENST00000617979.4:c.265G>T | ENSP00000483375.1:p.Ala89Ser | |
| NM_000403.3:c.265G>T | NP_000394.2:p.Ala89Ser | |
| NM_001008216.1:c.265G>T | NP_001008217.1:p.Ala89Ser | |
| NM_001127621.1:c.265G>T | NP_001121093.1:p.Ala89Ser | |
| NM_001008216.2:c.265G>T MANE Select | NP_001008217.1:p.Ala89Ser | |
| NM_000403.4:c.265G>T | NP_000394.2:p.Ala89Ser | |
| NM_001127621.2:c.265G>T | NP_001121093.1:p.Ala89Ser |