MyVariant.info:
GRCh37
chr13:g.33635463T>A
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33061326T>A , CM000675.2:g.33061326T>A | GRCh38 |
| NC_000013.10:g.33635463T>A , CM000675.1:g.33635463T>A | GRCh37 |
| NC_000013.9:g.32533463T>A | NCBI36 |
| NG_011485.1:g.49893T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380099.4:c.2247T>A MANE Select | ENSP00000369442.3:p.Ala749= | |
| ENST00000380099.3:c.2247T>A | ENSP00000369442.3:p.Ala749= | |
| ENST00000487852.1:n.2305T>A | ||
| NM_004795.3:c.2247T>A | NP_004786.2:p.Ala749= | |
| XM_006719895.1:c.1326T>A | XP_006719958.1:p.Ala442= | |
| XM_006719895.2:c.1326T>A | XP_006719958.1:p.Ala442= | |
| NM_004795.4:c.2247T>A MANE Select | NP_004786.2:p.Ala749= |