Linked Data
dbSNP Id:
rs184713186
gnomAD v2:
4-47408594-C-G
gnomAD v3:
4-47406577-C-G
gnomAD v4:
4-47406577-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.47406577C>G , CM000666.2:g.47406577C>G | GRCh38 |
| NC_000004.11:g.47408594C>G , CM000666.1:g.47408594C>G | GRCh37 |
| NC_000004.10:g.47103351C>G | NCBI36 |
| NG_051831.1:g.380300C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295454.8:c.836-105C>G MANE Select | ENSP00000295454.3:n.836-105C>G | |
| ENST00000295454.7:c.836-105C>G | ENSP00000295454.3:n.836-105C>G | |
| NM_000812.3:c.836-105C>G | NP_000803.2:n.836-105C>G | |
| XM_011513678.1:c.815-105C>G | XP_011511980.1:n.815-105C>G | |
| XM_017007985.1:c.185-105C>G | XP_016863474.1:n.185-105C>G | |
| XM_024453976.1:c.737-105C>G | XP_024309744.1:n.737-105C>G | |
| XM_024453977.1:c.737-105C>G | XP_024309745.1:n.737-105C>G | |
| XM_024453978.1:c.737-105C>G | XP_024309746.1:n.737-105C>G | |
| NM_000812.4:c.836-105C>G MANE Select | NP_000803.2:n.836-105C>G |