Linked Data
dbSNP Id:
rs114275966
gnomAD v2:
16-67974442-T-G
gnomAD v3:
16-67940539-T-G
gnomAD v4:
16-67940539-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940539T>G , CM000678.2:g.67940539T>G | GRCh38 |
| NC_000016.9:g.67974442T>G , CM000678.1:g.67974442T>G | GRCh37 |
| NC_000016.8:g.66531943T>G | NCBI36 |
| NG_009778.1:g.8574A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.749-61A>C MANE Select | ENSP00000264005.5:n.749-61A>C | |
| ENST00000264005.9:c.749-61A>C | ENSP00000264005.5:n.749-61A>C | |
| ENST00000570369.5:c.156-465A>C | ||
| ENST00000570980.1:c.533-61A>C | ENSP00000464651.1:n.533-61A>C | |
| ENST00000573538.5:c.487-61A>C | ENSP00000463220.1:n.487-61A>C | |
| NM_000229.1:c.749-61A>C | NP_000220.1:n.749-61A>C | |
| NM_000229.2:c.749-61A>C MANE Select | NP_000220.1:n.749-61A>C |