Linked Data
dbSNP Id:
rs764161140
ExAC:
6:31324501 G / GCT
gnomAD v2:
6-31324501-G-GCT
gnomAD v4:
6-31356724-G-GCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31356725_31356726insTC , CM000668.2:g.31356725_31356726insTC | GRCh38 |
| NC_000006.11:g.31324502_31324503insTC , CM000668.1:g.31324502_31324503insTC | GRCh37 |
| NC_000006.10:g.31432481_31432482insTC | NCBI36 |
| NG_023187.1:g.5488_5489insAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1779_1780insAG | ||
| ENST00000481849.6:n.1779_1780insAG | ||
| ENST00000497377.6:n.1779_1780insAG | ||
| ENST00000640094.2:c.306_307insAG | ENSP00000491275.2:p.Arg103SerfsTer? | |
| ENST00000696558.1:c.306_307insAG | ENSP00000512716.1:p.Arg103SerfsTer? | |
| ENST00000696559.1:c.306_307insAG | ENSP00000512717.1:p.Arg103SerfsTer? | |
| ENST00000696560.1:c.306_307insAG | ENSP00000512718.1:p.Arg103SerfsTer? | |
| ENST00000696561.1:c.306_307insAG | ENSP00000512719.1:p.Arg103SerfsTer? | |
| ENST00000696562.1:c.306_307insAG | ENSP00000512720.1:p.Arg103SerfsTer? | |
| ENST00000412585.7:c.306_307insAG MANE Select | ENSP00000399168.2:p.Arg103SerfsTer? | |
| ENST00000412585.6:c.306_307insAG | ENSP00000399168.2:p.Arg103SerfsTer? | |
| ENST00000434333.1:c.339_340insAG | ENSP00000405931.1:p.Arg114SerfsTer? | |
| ENST00000474381.1:n.181_182insAG | ||
| ENST00000498007.1:n.327_328insAG | ||
| ENST00000603274.1:n.79_80insTC | ||
| NM_005514.6:c.306_307insAG | NP_005505.2:p.Arg103SerfsTer? | |
| XM_011514556.1:c.339_340insAG | XP_011512858.1:p.Arg114SerfsTer? | |
| XM_011514557.1:c.306_307insAG | XP_011512859.1:p.Arg103SerfsTer? | |
| XR_926175.1:n.316_317insAG | ||
| NM_005514.7:c.306_307insAG | NP_005505.2:p.Arg103SerfsTer? | |
| NM_005514.8:c.306_307insAG MANE Select | NP_005505.2:p.Arg103SerfsTer? |