Linked Data
dbSNP Id:
rs1555211385
gnomAD v2:
10-48388903-G-GC
gnomAD v3:
10-47350454-T-TG
gnomAD v4:
10-47350454-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.47350458dup , CM000672.2:g.47350458dup | GRCh38 |
| NC_000010.10:g.48388907dup , CM000672.1:g.48388907dup | GRCh37 |
| NC_000010.9:g.48008913dup | NCBI36 |
| NG_029718.1:g.7088dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000584701.2:c.1974dup MANE Select | ENSP00000463151.1:p.Gln659AlafsTer? | |
| ENST00000584701.1:c.1974dup | ENSP00000463151.1:p.Gln659AlafsTer? | |
| NM_002900.2:c.1974dup | NP_002891.1:p.Gln659AlafsTer? | |
| NM_002900.3:c.1974dup MANE Select | NP_002891.1:p.Gln659AlafsTer? |