Linked Data
dbSNP Id:
rs1307719844
gnomAD v2:
6-39016737-C-T
gnomAD v3:
6-39048961-C-T
gnomAD v4:
6-39048961-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39048961C>T , CM000668.2:g.39048961C>T | GRCh38 |
| NC_000006.11:g.39016737C>T , CM000668.1:g.39016737C>T | GRCh37 |
| NC_000006.10:g.39124715C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373256.5:c.78+43C>T MANE Select | ENSP00000362353.4:n.78+43C>T | |
| ENST00000373256.4:c.78+43C>T | ENSP00000362353.4:n.78+43C>T | |
| NM_002062.3:c.78+43C>T | NP_002053.3:n.78+43C>T | |
| XR_926153.1:n.138+43C>T | ||
| XR_926154.1:n.138+43C>T | ||
| XR_926155.1:n.138+43C>T | ||
| NM_002062.4:c.78+43C>T | NP_002053.3:n.78+43C>T | |
| NR_136562.1:n.138+43C>T | ||
| NR_136563.1:n.138+43C>T | ||
| NM_002062.5:c.78+43C>T MANE Select | NP_002053.3:n.78+43C>T | |
| NR_136562.2:n.138+43C>T | ||
| NR_136563.2:n.138+43C>T |