Linked Data
dbSNP Id:
rs1177833515
gnomAD v2:
5-158750317-A-C
gnomAD v3:
5-159323309-A-C
gnomAD v4:
5-159323309-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.159323309A>C , CM000667.2:g.159323309A>C | GRCh38 |
| NC_000005.9:g.158750317A>C , CM000667.1:g.158750317A>C | GRCh37 |
| NC_000005.8:g.158682895A>C | NCBI36 |
| NG_009618.1:g.12165T>G , LRG_71:g.12165T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696750.1:c.-148-2789T>G | ENSP00000512849.1:n.-148-2789T>G | |
| ENST00000696751.1:c.109T>G | ENSP00000512850.1:p.Trp37Gly | |
| ENST00000231228.3:c.109T>G MANE Select | ENSP00000231228.2:p.Trp37Gly | |
| ENST00000231228.2:c.109T>G | ENSP00000231228.2:p.Trp37Gly | |
| NM_002187.2:c.109T>G , LRG_71t1:c.109T>G | NP_002178.2:p.Trp37Gly | |
| XR_001742945.1:n.148-2225A>C | ||
| NM_002187.3:c.109T>G MANE Select | NP_002178.2:p.Trp37Gly |