Linked Data
dbSNP Id:
rs10807344
gnomAD v2:
6-46625635-C-T
gnomAD v3:
6-46657898-C-T
gnomAD v4:
6-46657898-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.46657898C>T , CM000668.2:g.46657898C>T | GRCh38 |
| NC_000006.11:g.46625635C>T , CM000668.1:g.46625635C>T | GRCh37 |
| NC_000006.10:g.46733594C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371347.10:c.299-1064C>T MANE Select | ENSP00000360398.3:n.299-1064C>T | |
| ENST00000371347.9:c.299-1064C>T | ENSP00000360398.3:n.299-1064C>T | |
| ENST00000411689.6:c.299-1064C>T | ENSP00000412024.2:n.299-1064C>T | |
| NM_001204051.1:c.299-1064C>T | NP_001190980.1:n.299-1064C>T | |
| NM_001204052.1:c.299-1064C>T | NP_001190981.1:n.299-1064C>T | |
| NM_004277.4:c.299-1064C>T | NP_004268.3:n.299-1064C>T | |
| XM_005249483.2:c.299-1064C>T | XP_005249540.1:n.299-1064C>T | |
| XM_005249485.1:c.-17-1064C>T | XP_005249542.1:n.-17-1064C>T | |
| XR_427858.1:n.547-1064C>T | ||
| NM_004277.5:c.299-1064C>T MANE Select | NP_004268.3:n.299-1064C>T | |
| NM_001204051.2:c.299-1064C>T | NP_001190980.1:n.299-1064C>T | |
| NM_001204052.2:c.299-1064C>T | NP_001190981.1:n.299-1064C>T |