Linked Data
dbSNP Id:
rs12446492
gnomAD v2:
16-20408377-T-A
gnomAD v3:
16-20397055-T-A
gnomAD v4:
16-20397055-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.20397055T>A , CM000678.2:g.20397055T>A | GRCh38 |
| NC_000016.9:g.20408377T>A , CM000678.1:g.20408377T>A | GRCh37 |
| NC_000016.8:g.20315878T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000302451.9:c.202+2044A>T MANE Select | ENSP00000305465.4:n.202+2044A>T | |
| ENST00000302451.8:c.202+2044A>T | ENSP00000305465.4:n.202+2044A>T | |
| ENST00000575561.1:c.202+2044A>T | ENSP00000459161.1:n.202+2044A>T | |
| NM_174924.1:c.202+2044A>T | NP_777584.1:n.202+2044A>T | |
| XM_006721024.1:c.202+2044A>T | XP_006721087.1:n.202+2044A>T | |
| XM_011545764.1:c.202+2044A>T | XP_011544066.1:n.202+2044A>T | |
| XM_011545765.1:c.202+2044A>T | XP_011544067.1:n.202+2044A>T | |
| XR_950754.1:n.456+2044A>T | ||
| NM_174924.2:c.202+2044A>T MANE Select | NP_777584.1:n.202+2044A>T |