Linked Data
gnomAD v4:
5-128357389-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128357389T>C , CM000667.2:g.128357389T>C | GRCh38 |
| NC_000005.9:g.127693081T>C , CM000667.1:g.127693081T>C | GRCh37 |
| NC_000005.8:g.127720980T>C | NCBI36 |
| NG_008750.1:g.185655A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.2561A>G MANE Select | ENSP00000262464.4:p.Asn854Ser | |
| ENST00000262464.8:c.2561A>G | ENSP00000262464.4:p.Asn854Ser | |
| ENST00000508053.5:c.2561A>G | ENSP00000424571.1:p.Asn854Ser | |
| ENST00000508989.5:c.2462A>G | ENSP00000425596.1:p.Asn821Ser | |
| ENST00000619499.4:c.2558A>G | ENSP00000482132.1:p.Asn853Ser | |
| NM_001999.3:c.2561A>G | NP_001990.2:p.Asn854Ser | |
| XM_017009228.2:c.2408A>G | XP_016864717.1:p.Asn803Ser | |
| NM_001999.4:c.2561A>G MANE Select | NP_001990.2:p.Asn854Ser |