Linked Data
dbSNP Id:
rs1265189702
gnomAD v3:
6-31356655-T-A
gnomAD v4:
6-31356655-T-A
MyVariant Identifiers:
chr6:g.31324432T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356655T>A , CM000668.2:g.31356655T>A | GRCh38 |
| NC_000006.11:g.31324432T>A , CM000668.1:g.31324432T>A | GRCh37 |
| NC_000006.10:g.31432411T>A | NCBI36 |
| NG_023187.1:g.5558A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474381.2:n.1816+33A>T | ||
| ENST00000481849.6:n.1816+33A>T | ||
| ENST00000497377.6:n.1816+33A>T | ||
| ENST00000640094.2:c.343+33A>T | ENSP00000491275.2:n.343+33A>T | |
| ENST00000696558.1:c.343+33A>T | ENSP00000512716.1:n.343+33A>T | |
| ENST00000696559.1:c.343+33A>T | ENSP00000512717.1:n.343+33A>T | |
| ENST00000696560.1:c.343+33A>T | ENSP00000512718.1:n.343+33A>T | |
| ENST00000696561.1:c.343+33A>T | ENSP00000512719.1:n.343+33A>T | |
| ENST00000696562.1:c.343+33A>T | ENSP00000512720.1:n.343+33A>T | |
| ENST00000412585.7:c.343+33A>T MANE Select | ENSP00000399168.2:n.343+33A>T | |
| ENST00000412585.6:c.343+33A>T | ENSP00000399168.2:n.343+33A>T | |
| ENST00000434333.1:c.376+33A>T | ENSP00000405931.1:n.376+33A>T | |
| ENST00000474381.1:n.218+33A>T | ||
| ENST00000498007.1:n.397A>T | ||
| ENST00000603274.1:n.9T>A | ||
| NM_005514.6:c.343+33A>T | NP_005505.2:n.343+33A>T | |
| XM_011514556.1:c.376+33A>T | XP_011512858.1:n.376+33A>T | |
| XM_011514557.1:c.343+33A>T | XP_011512859.1:n.343+33A>T | |
| XR_926175.1:n.353+33A>T | ||
| NM_005514.7:c.343+33A>T | NP_005505.2:n.343+33A>T | |
| NM_005514.8:c.343+33A>T MANE Select | NP_005505.2:n.343+33A>T |