Linked Data
dbSNP Id:
rs562677576
ExAC:
6:31324983 T / TAAA
gnomAD v2:
6-31324983-T-TAAA
gnomAD v3:
6-31357206-T-TAAA
gnomAD v4:
6-31357206-T-TAAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31357207_31357208insAAA , CM000668.2:g.31357207_31357208insAAA | GRCh38 |
| NC_000006.11:g.31324984_31324985insAAA , CM000668.1:g.31324984_31324985insAAA | GRCh37 |
| NC_000006.10:g.31432963_31432964insAAA | NCBI36 |
| NG_023187.1:g.5006_5007insTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1425_1426insTTT | ||
| ENST00000481849.6:n.1425_1426insTTT | ||
| ENST00000497377.6:n.1425_1426insTTT | ||
| ENST00000696559.1:c.-49_-48insTTT | ENSP00000512717.1:n.-49_-48insTTT | |
| ENST00000696560.1:c.-49_-48insTTT | ENSP00000512718.1:n.-49_-48insTTT | |
| ENST00000696561.1:c.-49_-48insTTT | ENSP00000512719.1:n.-49_-48insTTT | |
| ENST00000696562.1:c.-49_-48insTTT | ENSP00000512720.1:n.-49_-48insTTT | |
| ENST00000603274.1:n.561_562insAAA | ||
| NM_005514.6:c.-49_-48insTTT | NP_005505.2:n.-49_-48insTTT | |
| NM_005514.7:c.-49_-48insTTT | NP_005505.2:n.-49_-48insTTT |