Linked Data
dbSNP Id:
rs575113848
gnomAD v2:
5-158754244-C-T
gnomAD v3:
5-159327236-C-T
gnomAD v4:
5-159327236-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159327236C>T , CM000667.2:g.159327236C>T | GRCh38 |
| NC_000005.9:g.158754244C>T , CM000667.1:g.158754244C>T | GRCh37 |
| NC_000005.8:g.158686822C>T | NCBI36 |
| NG_009618.1:g.8238G>A , LRG_71:g.8238G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696750.1:c.-149+3196G>A | ENSP00000512849.1:n.-149+3196G>A | |
| ENST00000696751.1:c.1-454G>A | ENSP00000512850.1:n.1-454G>A | |
| ENST00000696752.1:n.433-454G>A | ||
| ENST00000231228.3:c.1-454G>A MANE Select | ENSP00000231228.2:n.1-454G>A | |
| ENST00000231228.2:c.1-454G>A | ENSP00000231228.2:n.1-454G>A | |
| NM_002187.2:c.1-454G>A , LRG_71t1:c.1-454G>A | NP_002178.2:n.1-454G>A | |
| NM_002187.3:c.1-454G>A MANE Select | NP_002178.2:n.1-454G>A |