Linked Data
gnomAD v4:
14-21312484-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21312484A>C , CM000676.2:g.21312484A>C | GRCh38 |
| NC_000014.8:g.21780643A>C , CM000676.1:g.21780643A>C | GRCh37 |
| NC_000014.7:g.20850483A>C | NCBI36 |
| NG_008933.1:g.29508A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.1129A>C MANE Select | ENSP00000382895.2:p.Asn377His | |
| ENST00000400017.6:c.1129A>C | ENSP00000382895.2:p.Asn377His | |
| ENST00000556336.5:c.1048A>C | ENSP00000450445.1:p.Asn350His | |
| ENST00000557771.5:c.1048A>C | ENSP00000451219.1:p.Asn350His | |
| NM_020366.3:c.1129A>C | NP_065099.3:p.Asn377His | |
| XM_011536983.1:c.1096A>C | XP_011535285.1:p.Asn366His | |
| NM_020366.4:c.1129A>C MANE Select | NP_065099.3:p.Asn377His |