Linked Data
ClinVar Variation Id:
2784749
ClinVar RCV Id:
RCV003662427
dbSNP Id:
rs199870358
gnomAD v2:
3-172166126-G-A
gnomAD v3:
3-172448336-G-A
gnomAD v4:
3-172448336-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.172448336G>A , CM000665.2:g.172448336G>A | GRCh38 |
| NC_000003.11:g.172166126G>A , CM000665.1:g.172166126G>A | GRCh37 |
| NC_000003.10:g.173648820G>A | NCBI36 |
| NG_021159.1:g.5121C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241256.3:c.78C>T MANE Select | ENSP00000241256.2:p.Gly26= | |
| ENST00000241256.2:c.78C>T | ENSP00000241256.2:p.Gly26= | |
| ENST00000427970.1:c.78C>T | ENSP00000395344.1:p.Gly26= | |
| NM_004122.2:c.78C>T | NP_004113.1:p.Gly26= | |
| NM_198407.2:c.78C>T MANE Select | NP_940799.1:p.Gly26= |