Linked Data
dbSNP Id:
rs1388561663
gnomAD v2:
3-138664582-G-C
gnomAD v3:
3-138945740-G-C
gnomAD v4:
3-138945740-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945740G>C , CM000665.2:g.138945740G>C | GRCh38 |
| NC_000003.11:g.138664582G>C , CM000665.1:g.138664582G>C | GRCh37 |
| NC_000003.10:g.140147272G>C | NCBI36 |
| NG_012454.1:g.6401C>G | |
| NG_029796.1:g.3507G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.983C>G MANE Select | ENSP00000497217.1:p.Ala328Gly | |
| ENST00000330315.3:c.983C>G | ENSP00000333188.3:p.Ala328Gly | |
| NM_023067.3:c.983C>G | NP_075555.1:p.Ala328Gly | |
| NM_023067.4:c.983C>G MANE Select | NP_075555.1:p.Ala328Gly |