Linked Data
dbSNP Id:
rs3836018
gnomAD v2:
2-172712107-T-TG
gnomAD v3:
2-171855597-T-TG
gnomAD v4:
2-171855597-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.171855597_171855598insG , CM000664.2:g.171855597_171855598insG | GRCh38 |
| NC_000002.11:g.172712107_172712108insG , CM000664.1:g.172712107_172712108insG | GRCh37 |
| NC_000002.10:g.172420353_172420354insG | NCBI36 |
| NG_011781.1:g.43706_43707insC | |
| NG_011781.2:g.43706_43707insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422440.7:c.325+236_325+237insC MANE Select | ENSP00000388658.2:n.325+236_325+237insC | |
| ENST00000263812.8:c.210-11090_210-11089insC | ENSP00000263812.4:n.210-11090_210-11089insC | |
| ENST00000422440.6:c.325+236_325+237insC | ENSP00000388658.2:n.325+236_325+237insC | |
| ENST00000426896.5:c.325+236_325+237insC | ENSP00000413968.1:n.325+236_325+237insC | |
| ENST00000472748.5:n.490+236_490+237insC | ||
| ENST00000475360.6:c.313+236_313+237insC | ENSP00000437845.1:n.313+236_313+237insC | |
| NM_003705.4:c.325+236_325+237insC | NP_003696.2:n.325+236_325+237insC | |
| NR_047549.1:n.302-11090_302-11089insC | ||
| XM_005246923.3:c.274+236_274+237insC | XP_005246980.1:n.274+236_274+237insC | |
| XM_011512069.1:c.325+236_325+237insC | XP_011510371.1:n.325+236_325+237insC | |
| XM_011512070.1:c.-53+236_-53+237insC | XP_011510372.1:n.-53+236_-53+237insC | |
| XM_011512070.3:c.-53+236_-53+237insC | XP_011510372.1:n.-53+236_-53+237insC | |
| NM_003705.5:c.325+236_325+237insC MANE Select | NP_003696.2:n.325+236_325+237insC | |
| NR_047549.2:n.240-11090_240-11089insC |