Linked Data
dbSNP Id:
rs3212220
gnomAD v2:
5-158754195-C-A
gnomAD v3:
5-159327187-C-A
gnomAD v4:
5-159327187-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159327187C>A , CM000667.2:g.159327187C>A | GRCh38 |
| NC_000005.9:g.158754195C>A , CM000667.1:g.158754195C>A | GRCh37 |
| NC_000005.8:g.158686773C>A | NCBI36 |
| NG_009618.1:g.8287G>T , LRG_71:g.8287G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696750.1:c.-149+3245G>T | ENSP00000512849.1:n.-149+3245G>T | |
| ENST00000696751.1:c.1-405G>T | ENSP00000512850.1:n.1-405G>T | |
| ENST00000696752.1:n.433-405G>T | ||
| ENST00000231228.3:c.1-405G>T MANE Select | ENSP00000231228.2:n.1-405G>T | |
| ENST00000231228.2:c.1-405G>T | ENSP00000231228.2:n.1-405G>T | |
| NM_002187.2:c.1-405G>T , LRG_71t1:c.1-405G>T | NP_002178.2:n.1-405G>T | |
| NM_002187.3:c.1-405G>T MANE Select | NP_002178.2:n.1-405G>T |