MyVariant.info:
GRCh37
chr20:g.44452697C>T
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45824058C>T , CM000682.2:g.45824058C>T | GRCh38 |
| NC_000020.10:g.44452697C>T , CM000682.1:g.44452697C>T | GRCh37 |
| NC_000020.9:g.43886104C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372555.8:c.384G>A MANE Select | ENSP00000361636.3:p.Thr128= | |
| ENST00000372555.7:c.384G>A | ENSP00000361636.3:p.Thr128= | |
| ENST00000372557.1:c.339G>A | ENSP00000361638.1:p.Thr113= | |
| NM_003279.2:c.384G>A | NP_003270.1:p.Thr128= | |
| XM_011529031.1:c.339G>A | XP_011527333.1:p.Thr113= | |
| XM_011529031.2:c.339G>A | XP_011527333.1:p.Thr113= | |
| NM_003279.3:c.384G>A MANE Select | NP_003270.1:p.Thr128= |