Linked Data
dbSNP Id:
rs2113713576
gnomAD v3:
6-31402226-T-C
gnomAD v4:
6-31402226-T-C
MyVariant Identifiers:
chr6:g.31370003T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31402226T>C , CM000668.2:g.31402226T>C | GRCh38 |
| NC_000006.11:g.31370003T>C , CM000668.1:g.31370003T>C | GRCh37 |
| NC_000006.10:g.31477982T>C | NCBI36 |
| NG_034139.1:g.7443T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000667609.1:n.134T>C | ||
| ENST00000673647.1:c.-319T>C | ENSP00000500967.1:n.-319T>C | |
| ENST00000673996.1:n.79+1443T>C | ||
| ENST00000674069.1:c.-173+1463T>C | ENSP00000501157.1:n.-173+1463T>C | |
| ENST00000674131.1:c.-319T>C | ENSP00000501002.1:n.-319T>C | |
| ENST00000616296.4:c.-222+1443T>C | ENSP00000482382.1:n.-222+1443T>C | |
| NM_001289152.1:c.-222+1443T>C | NP_001276081.1:n.-222+1443T>C | |
| NM_001289153.1:c.-222+1463T>C | NP_001276082.1:n.-222+1463T>C | |
| NM_001289154.1:c.-173+1463T>C | NP_001276083.1:n.-173+1463T>C | |
| NM_001289152.2:c.-222+1443T>C | NP_001276081.1:n.-222+1443T>C | |
| NM_001289153.2:c.-222+1463T>C | NP_001276082.1:n.-222+1463T>C | |
| NM_001289154.2:c.-173+1463T>C | NP_001276083.1:n.-173+1463T>C |