Linked Data
dbSNP Id:
rs1206081272
gnomAD v2:
5-1416171-T-C
gnomAD v3:
5-1416056-T-C
gnomAD v4:
5-1416056-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1416056T>C , CM000667.2:g.1416056T>C | GRCh38 |
| NC_000005.9:g.1416171T>C , CM000667.1:g.1416171T>C | GRCh37 |
| NC_000005.8:g.1469171T>C | NCBI36 |
| NG_015885.1:g.34373A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270349.12:c.1031+42A>G MANE Select | ENSP00000270349.9:n.1031+42A>G | |
| ENST00000270349.11:c.1031+42A>G | ENSP00000270349.9:n.1031+42A>G | |
| ENST00000511750.1:n.481+42A>G | ||
| NM_001044.4:c.1031+42A>G | NP_001035.1:n.1031+42A>G | |
| NM_001044.5:c.1031+42A>G MANE Select | NP_001035.1:n.1031+42A>G |