Linked Data
dbSNP Id:
rs2127378559
gnomAD v4:
6-32842991-A-G
MyVariant Identifiers:
chr6:g.32810768A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32842991A>G , CM000668.2:g.32842991A>G | GRCh38 |
| NC_000006.11:g.32810768A>G , CM000668.1:g.32810768A>G | GRCh37 |
| NC_000006.10:g.32918746A>G | NCBI36 |
| NG_009793.3:g.780T>C | |
| NG_028165.1:g.6945T>C | |
| NG_009793.4:g.780T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.267T>C | ||
| ENST00000697612.1:n.945T>C | ||
| ENST00000374881.3:c.234T>C | ENSP00000364015.2:p.His78= | |
| ENST00000374882.8:c.246T>C MANE Select | ENSP00000364016.4:p.His82= | |
| ENST00000650411.1:n.1567T>C | ||
| ENST00000650793.1:n.267T>C | ||
| ENST00000374881.2:c.234T>C | ENSP00000364015.2:p.His78= | |
| ENST00000374882.7:c.246T>C | ENSP00000364016.3:p.His82= | |
| ENST00000395339.7:c.246T>C | ENSP00000378748.3:p.His82= | |
| ENST00000484003.1:n.472T>C | ||
| NM_004159.4:c.234T>C | NP_004150.1:p.His78= | |
| NM_148919.3:c.246T>C | NP_683720.2:p.His82= | |
| NM_148919.4:c.246T>C MANE Select | NP_683720.2:p.His82= | |
| NM_004159.5:c.234T>C | NP_004150.1:p.His78= |