Linked Data
dbSNP Id:
rs1400538188
gnomAD v2:
5-158754149-G-C
gnomAD v3:
5-159327141-G-C
gnomAD v4:
5-159327141-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159327141G>C , CM000667.2:g.159327141G>C | GRCh38 |
| NC_000005.9:g.158754149G>C , CM000667.1:g.158754149G>C | GRCh37 |
| NC_000005.8:g.158686727G>C | NCBI36 |
| NG_009618.1:g.8333C>G , LRG_71:g.8333C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696750.1:c.-149+3291C>G | ENSP00000512849.1:n.-149+3291C>G | |
| ENST00000696751.1:c.1-359C>G | ENSP00000512850.1:n.1-359C>G | |
| ENST00000696752.1:n.433-359C>G | ||
| ENST00000231228.3:c.1-359C>G MANE Select | ENSP00000231228.2:n.1-359C>G | |
| ENST00000231228.2:c.1-359C>G | ENSP00000231228.2:n.1-359C>G | |
| NM_002187.2:c.1-359C>G , LRG_71t1:c.1-359C>G | NP_002178.2:n.1-359C>G | |
| NM_002187.3:c.1-359C>G MANE Select | NP_002178.2:n.1-359C>G |