Linked Data
dbSNP Id:
rs10755578
ExAC:
6:160969738 C / G
gnomAD v2:
6-160969738-C-G
gnomAD v3:
6-160548706-C-G
gnomAD v4:
6-160548706-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160548706C>G , CM000668.2:g.160548706C>G | GRCh38 |
| NC_000006.11:g.160969738C>G , CM000668.1:g.160969738C>G | GRCh37 |
| NC_000006.10:g.160889728C>G | NCBI36 |
| NG_016147.1:g.122670G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316300.10:c.4974-47G>C MANE Select | ENSP00000321334.6:n.4974-47G>C | |
| ENST00000316300.9:c.4974-47G>C | ENSP00000321334.5:n.4974-47G>C | |
| NM_005577.2:c.4974-47G>C | NP_005568.2:n.4974-47G>C | |
| NM_005577.3:c.4974-47G>C | NP_005568.2:n.4974-47G>C | |
| NM_005577.4:c.4974-47G>C MANE Select | NP_005568.2:n.4974-47G>C |