Linked Data
gnomAD v4:
6-116882319-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116882319T>C , CM000668.2:g.116882319T>C | GRCh38 |
| NC_000006.11:g.117203482T>C , CM000668.1:g.117203482T>C | GRCh37 |
| NC_000006.10:g.117310175T>C | NCBI36 |
| NG_027699.1:g.10107T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332958.3:c.505-48T>C MANE Select | ENSP00000332208.2:n.505-48T>C | |
| ENST00000332958.2:c.505-48T>C | ENSP00000332208.2:n.505-48T>C | |
| ENST00000487683.5:n.569-48T>C | ||
| NM_173560.3:c.505-48T>C | NP_775831.2:n.505-48T>C | |
| XM_011535589.1:c.505-48T>C | XP_011533891.1:n.505-48T>C | |
| XM_017010477.1:c.127-48T>C | XP_016865966.1:n.127-48T>C | |
| NM_173560.4:c.505-48T>C MANE Select | NP_775831.2:n.505-48T>C |