Linked Data
dbSNP Id:
rs1568602876
gnomAD v2:
19-11223662-G-GTT
gnomAD v3:
19-11112986-G-GTT
gnomAD v4:
19-11112986-G-GTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11112986_11112987insTT , CM000681.2:g.11112986_11112987insTT | GRCh38 |
| NC_000019.9:g.11223662_11223663insTT , CM000681.1:g.11223662_11223663insTT | GRCh37 |
| NC_000019.8:g.11084662_11084663insTT | NCBI36 |
| NG_009060.1:g.28606_28607insTT , LRG_274:g.28606_28607insTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.1445-292_1445-291insTT | ENSP00000252444.6:n.1445-292_1445-291insTT | |
| ENST00000559340.2:c.1187-292_1187-291insTT | ENSP00000453696.2:n.1187-292_1187-291insTT | |
| ENST00000560467.2:c.1067-292_1067-291insTT | ENSP00000453513.2:n.1067-292_1067-291insTT | |
| ENST00000558518.6:c.1187-292_1187-291insTT MANE Select | ENSP00000454071.1:n.1187-292_1187-291insTT | |
| ENST00000252444.9:c.1441-292_1441-291insTT | ||
| ENST00000455727.6:c.683-292_683-291insTT | ENSP00000397829.2:n.683-292_683-291insTT | |
| ENST00000535915.5:c.1064-292_1064-291insTT | ENSP00000440520.1:n.1064-292_1064-291insTT | |
| ENST00000545707.5:c.806-292_806-291insTT | ENSP00000437639.1:n.806-292_806-291insTT | |
| ENST00000557933.5:c.1187-292_1187-291insTT | ENSP00000453557.1:n.1187-292_1187-291insTT | |
| ENST00000558013.5:c.1187-292_1187-291insTT | ENSP00000453346.1:n.1187-292_1187-291insTT | |
| ENST00000558518.5:c.1187-292_1187-291insTT | ENSP00000454071.1:n.1187-292_1187-291insTT | |
| ENST00000560173.1:n.186-292_186-291insTT | ||
| ENST00000560467.1:c.667-292_667-291insTT | ||
| NM_000527.4:c.1187-292_1187-291insTT , LRG_274t1:c.1187-292_1187-291insTT | NP_000518.1:n.1187-292_1187-291insTT | |
| NM_001195798.1:c.1187-292_1187-291insTT | NP_001182727.1:n.1187-292_1187-291insTT | |
| NM_001195799.1:c.1064-292_1064-291insTT | NP_001182728.1:n.1064-292_1064-291insTT | |
| NM_001195800.1:c.683-292_683-291insTT | NP_001182729.1:n.683-292_683-291insTT | |
| NM_001195803.1:c.806-292_806-291insTT | NP_001182732.1:n.806-292_806-291insTT | |
| XM_011528010.1:c.1187-292_1187-291insTT | XP_011526312.1:n.1187-292_1187-291insTT | |
| XM_011528011.1:c.806-292_806-291insTT | XP_011526313.1:n.806-292_806-291insTT | |
| XR_244074.2:n.1337-292_1337-291insTT | ||
| XM_011528010.2:c.1187-292_1187-291insTT | XP_011526312.1:n.1187-292_1187-291insTT | |
| XR_001753685.2:n.1304-292_1304-291insTT | ||
| XR_001753686.2:n.1304-292_1304-291insTT | ||
| NM_000527.5:c.1187-292_1187-291insTT MANE Select | NP_000518.1:n.1187-292_1187-291insTT | |
| NM_001195798.2:c.1187-292_1187-291insTT | NP_001182727.1:n.1187-292_1187-291insTT | |
| NM_001195799.2:c.1064-292_1064-291insTT | NP_001182728.1:n.1064-292_1064-291insTT | |
| NM_001195800.2:c.683-292_683-291insTT | NP_001182729.1:n.683-292_683-291insTT | |
| NM_001195803.2:c.806-292_806-291insTT | NP_001182732.1:n.806-292_806-291insTT |