Linked Data
gnomAD v4:
5-128357374-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128357374T>C , CM000667.2:g.128357374T>C | GRCh38 |
| NC_000005.9:g.127693066T>C , CM000667.1:g.127693066T>C | GRCh37 |
| NC_000005.8:g.127720965T>C | NCBI36 |
| NG_008750.1:g.185670A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.2576A>G MANE Select | ENSP00000262464.4:p.Asn859Ser | |
| ENST00000262464.8:c.2576A>G | ENSP00000262464.4:p.Asn859Ser | |
| ENST00000508053.5:c.2576A>G | ENSP00000424571.1:p.Asn859Ser | |
| ENST00000508989.5:c.2477A>G | ENSP00000425596.1:p.Asn826Ser | |
| ENST00000619499.4:c.2573A>G | ENSP00000482132.1:p.Asn858Ser | |
| NM_001999.3:c.2576A>G | NP_001990.2:p.Asn859Ser | |
| XM_017009228.2:c.2423A>G | XP_016864717.1:p.Asn808Ser | |
| NM_001999.4:c.2576A>G MANE Select | NP_001990.2:p.Asn859Ser |