Linked Data
dbSNP Id:
rs11242417
gnomAD v2:
5-137599334-T-G
gnomAD v3:
5-138263645-T-G
gnomAD v4:
5-138263645-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.138263645T>G , CM000667.2:g.138263645T>G | GRCh38 |
| NC_000005.9:g.137599334T>G , CM000667.1:g.137599334T>G | GRCh37 |
| NC_000005.8:g.137627233T>G | NCBI36 |
| NG_046894.1:g.15920A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274721.8:c.379+616A>C MANE Select | ENSP00000274721.3:n.379+616A>C | |
| ENST00000274721.7:c.379+616A>C | ENSP00000274721.3:n.379+616A>C | |
| ENST00000378362.3:c.379+616A>C | ENSP00000367613.3:n.379+616A>C | |
| NM_001496.3:c.379+616A>C | NP_001487.2:n.379+616A>C | |
| NM_001496.4:c.379+616A>C MANE Select | NP_001487.2:n.379+616A>C |