Linked Data
dbSNP Id:
rs777840516
ExAC:
6:29910285 G / GTT
gnomAD v2:
6-29910285-G-GTT
gnomAD v3:
6-29942508-G-GTT
gnomAD v4:
6-29942508-G-GTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29942508_29942509insTT , CM000668.2:g.29942508_29942509insTT | GRCh38 |
| NC_000006.11:g.29910285_29910286insTT , CM000668.1:g.29910285_29910286insTT | GRCh37 |
| NC_000006.10:g.30018264_30018265insTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706892.1:n.231_232insTT | ||
| ENST00000706893.1:c.-46_-45insTT | ENSP00000516609.1:n.-46_-45insTT | |
| ENST00000706894.1:c.-46_-45insTT | ENSP00000516610.1:n.-46_-45insTT | |
| ENST00000706895.1:n.231_232insTT | ||
| ENST00000706896.1:n.231_232insTT | ||
| ENST00000706897.1:n.231_232insTT | ||
| ENST00000706898.1:c.-46_-45insTT | ENSP00000516611.1:n.-46_-45insTT | |
| ENST00000706899.1:n.231_232insTT | ||
| ENST00000706901.1:c.-46_-45insTT | ENSP00000516612.1:n.-46_-45insTT | |
| ENST00000706902.1:c.-46_-45insTT | ENSP00000516613.1:n.-46_-45insTT | |
| ENST00000706903.1:c.-46_-45insTT | ENSP00000516614.1:n.-46_-45insTT | |
| ENST00000706904.1:c.-46_-45insTT | ENSP00000516615.1:n.-46_-45insTT | |
| ENST00000706905.1:c.-46_-45insTT | ENSP00000516616.1:n.-46_-45insTT | |
| ENST00000376806.9:c.-46_-45insTT | ENSP00000366002.5:n.-46_-45insTT | |
| ENST00000376809.9:c.-46_-45insTT | ENSP00000366005.5:n.-46_-45insTT | |
| ENST00000396634.5:c.-46_-45insTT | ENSP00000379873.1:n.-46_-45insTT | |
| ENST00000429656.1:n.559_560insAA | ||
| NM_002116.7:c.-46_-45insTT | NP_002107.3:n.-46_-45insTT |