Linked Data
dbSNP Id:
rs73414382
gnomAD v2:
6-38650881-G-T
gnomAD v3:
6-38683105-G-T
gnomAD v4:
6-38683105-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38683105G>T , CM000668.2:g.38683105G>T | GRCh38 |
| NC_000006.11:g.38650881G>T , CM000668.1:g.38650881G>T | GRCh37 |
| NC_000006.10:g.38758859G>T | NCBI36 |
| NG_012074.1:g.25072C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373365.5:c.309-230C>A MANE Select | ENSP00000362463.3:n.309-230C>A | |
| ENST00000373365.4:c.309-230C>A | ENSP00000362463.3:n.309-230C>A | |
| ENST00000470973.1:n.111C>A | ||
| NM_006708.2:c.309-230C>A | NP_006699.2:n.309-230C>A | |
| NM_006708.3:c.309-230C>A MANE Select | NP_006699.2:n.309-230C>A |