Linked Data
MyVariant Identifiers:
chr5:g.127636621A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128300929A>G , CM000667.2:g.128300929A>G | GRCh38 |
| NC_000005.9:g.127636621A>G , CM000667.1:g.127636621A>G | GRCh37 |
| NC_000005.8:g.127664520A>G | NCBI36 |
| NG_008750.1:g.242115T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703783.1:n.2838T>C | ||
| ENST00000703785.1:n.2757T>C | ||
| ENST00000262464.9:c.6054T>C MANE Select | ENSP00000262464.4:p.Asn2018= | |
| ENST00000262464.8:c.6054T>C | ENSP00000262464.4:p.Asn2018= | |
| ENST00000508053.5:c.6054T>C | ENSP00000424571.1:p.Asn2018= | |
| ENST00000619499.4:c.6051T>C | ENSP00000482132.1:p.Asn2017= | |
| NM_001999.3:c.6054T>C | NP_001990.2:p.Asn2018= | |
| XM_017009228.2:c.5901T>C | XP_016864717.1:p.Asn1967= | |
| NM_001999.4:c.6054T>C MANE Select | NP_001990.2:p.Asn2018= |