Linked Data
dbSNP Id:
rs1013542807
gnomAD v2:
19-15751817-C-T
gnomAD v3:
19-15641007-C-T
gnomAD v4:
19-15641007-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15641007C>T , CM000681.2:g.15641007C>T | GRCh38 |
| NC_000019.9:g.15751817C>T , CM000681.1:g.15751817C>T | GRCh37 |
| NC_000019.8:g.15612817C>T | NCBI36 |
| NG_007964.1:g.5111C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000221307.13:c.-2+62C>T MANE Select | ENSP00000221307.6:n.-2+62C>T | |
| ENST00000221307.12:c.-2+62C>T | ENSP00000221307.6:n.-2+62C>T | |
| ENST00000586182.6:c.-2+78C>T | ENSP00000466395.1:n.-2+78C>T | |
| ENST00000591058.5:c.-2+62C>T | ENSP00000466988.1:n.-2+62C>T | |
| ENST00000592279.6:n.49+62C>T | ||
| ENST00000620621.4:c.344-6045C>T | ENSP00000478605.1:n.344-6045C>T | |
| NM_000896.2:c.-2+62C>T | NP_000887.2:n.-2+62C>T | |
| NM_001199208.1:c.-2+62C>T | NP_001186137.1:n.-2+62C>T | |
| NM_001199209.1:c.-2+78C>T | NP_001186138.1:n.-2+78C>T | |
| NM_000896.3:c.-2+62C>T MANE Select | NP_000887.2:n.-2+62C>T | |
| NM_001199208.2:c.-2+62C>T | NP_001186137.1:n.-2+62C>T | |
| NM_001199209.2:c.-2+78C>T | NP_001186138.1:n.-2+78C>T |