Linked Data
dbSNP Id:
rs587773179
gnomAD v2:
1-149899475-C-T
gnomAD v3:
1-149927583-C-T
gnomAD v4:
1-149927583-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149927583C>T , CM000663.2:g.149927583C>T | GRCh38 |
| NC_000001.10:g.149899475C>T , CM000663.1:g.149899475C>T | GRCh37 |
| NC_000001.9:g.148166099C>T | NCBI36 |
| NG_032777.1:g.5670G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.9:c.34+143G>A MANE Select | ENSP00000271628.8:n.34+143G>A | |
| ENST00000271628.8:c.34+143G>A | ENSP00000271628.8:n.34+143G>A | |
| ENST00000457312.1:c.-247G>A | ENSP00000391114.1:n.-247G>A | |
| NM_005850.4:c.34+143G>A | NP_005841.1:n.34+143G>A | |
| NM_005850.5:c.34+143G>A MANE Select | NP_005841.1:n.34+143G>A |