Linked Data
dbSNP Id:
rs748024139
ExAC:
3:138664567 G / A
gnomAD v2:
3-138664567-G-A
gnomAD v4:
3-138945725-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945725G>A , CM000665.2:g.138945725G>A | GRCh38 |
| NC_000003.11:g.138664567G>A , CM000665.1:g.138664567G>A | GRCh37 |
| NC_000003.10:g.140147257G>A | NCBI36 |
| NG_012454.1:g.6416C>T | |
| NG_029796.1:g.3492G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.998C>T MANE Select | ENSP00000497217.1:p.Pro333Leu | |
| ENST00000330315.3:c.998C>T | ENSP00000333188.3:p.Pro333Leu | |
| NM_023067.3:c.998C>T | NP_075555.1:p.Pro333Leu | |
| NM_023067.4:c.998C>T MANE Select | NP_075555.1:p.Pro333Leu |