Linked Data
dbSNP Id:
rs760768263
ExAC:
16:67974278 A / G
gnomAD v2:
16-67974278-A-G
gnomAD v4:
16-67940375-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940375A>G , CM000678.2:g.67940375A>G | GRCh38 |
| NC_000016.9:g.67974278A>G , CM000678.1:g.67974278A>G | GRCh37 |
| NC_000016.8:g.66531779A>G | NCBI36 |
| NG_009778.1:g.8738T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.852T>C MANE Select | ENSP00000264005.5:p.Pro284= | |
| ENST00000264005.9:c.852T>C | ENSP00000264005.5:p.Pro284= | |
| ENST00000570369.5:c.156-301T>C | ||
| ENST00000570980.1:c.636T>C | ENSP00000464651.1:p.Pro212= | |
| ENST00000573538.5:c.590T>C | ENSP00000463220.1:n.590T>C | |
| NM_000229.1:c.852T>C | NP_000220.1:p.Pro284= | |
| NM_000229.2:c.852T>C MANE Select | NP_000220.1:p.Pro284= |