Linked Data
dbSNP Id:
rs757038357
ExAC:
3:138664880 C / T
gnomAD v2:
3-138664880-C-T
gnomAD v3:
3-138946038-C-T
gnomAD v4:
3-138946038-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138946038C>T , CM000665.2:g.138946038C>T | GRCh38 |
| NC_000003.11:g.138664880C>T , CM000665.1:g.138664880C>T | GRCh37 |
| NC_000003.10:g.140147570C>T | NCBI36 |
| NG_012454.1:g.6103G>A | |
| NG_029796.1:g.3805C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.685G>A MANE Select | ENSP00000497217.1:p.Ala229Thr | |
| ENST00000330315.3:c.685G>A | ENSP00000333188.3:p.Ala229Thr | |
| NM_023067.3:c.685G>A | NP_075555.1:p.Ala229Thr | |
| NM_023067.4:c.685G>A MANE Select | NP_075555.1:p.Ala229Thr |