Linked Data
MyVariant Identifiers:
chr22:g.23627370T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23285183T>C , CM000684.2:g.23285183T>C | GRCh38 |
| NC_000022.10:g.23627370T>C , CM000684.1:g.23627370T>C | GRCh37 |
| NC_000022.9:g.21957370T>C | NCBI36 |
| NG_009244.1:g.109819T>C | |
| NG_009244.2:g.109819T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000305877.13:c.2388T>C MANE Select | ENSP00000303507.8:p.Asn796= | |
| ENST00000305877.12:c.2388T>C | ENSP00000303507.8:p.Asn796= | |
| ENST00000359540.7:c.2388T>C | ENSP00000352535.3:p.Asn796= | |
| ENST00000398512.9:c.1270-2961T>C | ENSP00000381524.6:n.1270-2961T>C | |
| ENST00000466076.1:n.462T>C | ||
| ENST00000487968.5:n.1041T>C | ||
| NM_004327.3:c.2388T>C | NP_004318.3:p.Asn796= | |
| NM_021574.2:c.2388T>C | NP_067585.2:p.Asn796= | |
| NM_004327.4:c.2388T>C MANE Select | NP_004318.3:p.Asn796= | |
| NM_021574.3:c.2388T>C | NP_067585.2:p.Asn796= |