Linked Data
dbSNP Id:
rs757945104
gnomAD v2:
3-81720031-C-A
gnomAD v3:
3-81670880-C-A
gnomAD v4:
3-81670880-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81670880C>A , CM000665.2:g.81670880C>A | GRCh38 |
| NC_000003.11:g.81720031C>A , CM000665.1:g.81720031C>A | GRCh37 |
| NC_000003.10:g.81802721C>A | NCBI36 |
| NG_011810.1:g.95921G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.387G>T MANE Select | ENSP00000410833.2:p.Lys129Asn | |
| ENST00000429644.6:c.387G>T | ENSP00000410833.2:p.Lys129Asn | |
| ENST00000477426.1:n.103G>T | ||
| ENST00000489715.1:c.264G>T | ENSP00000419638.1:p.Lys88Asn | |
| NM_000158.3:c.387G>T | NP_000149.3:p.Lys129Asn | |
| NM_000158.4:c.387G>T MANE Select | NP_000149.4:p.Lys129Asn |