Linked Data
dbSNP Id:
rs774964712
ExAC:
15:75012954 G / GA
gnomAD v2:
15-75012954-G-GA
gnomAD v4:
15-74720613-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74720613_74720614insA , CM000677.2:g.74720613_74720614insA | GRCh38 |
| NC_000015.9:g.75012954_75012955insA , CM000677.1:g.75012954_75012955insA | GRCh37 |
| NC_000015.8:g.72800007_72800008insA | NCBI36 |
| NG_008431.1:g.3072_3073insA | |
| NG_008431.2:g.3072_3073insA | |
| NG_061374.1:g.9915_9916insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379727.8:c.1414_1415insT MANE Select | ENSP00000369050.3:p.Ala472ValfsTer? | |
| ENST00000379727.7:c.1414_1415insT | ENSP00000369050.3:p.Ala472ValfsTer? | |
| ENST00000395048.6:c.1414_1415insT | ENSP00000378488.2:p.Ala472ValfsTer? | |
| ENST00000395049.8:c.1327_1328insT | ENSP00000378489.4:p.Ala443ValfsTer? | |
| ENST00000567032.5:c.1414_1415insT | ENSP00000456585.1:p.Ala472ValfsTer? | |
| ENST00000612821.4:c.1330_1331insT | ENSP00000479744.1:p.Ala444ValfsTer? | |
| ENST00000617691.4:c.1327_1328insT | ENSP00000482863.1:p.Ala443ValfsTer? | |
| NM_000499.3:c.1414_1415insT | NP_000490.1:p.Ala472ValfsTer? | |
| XM_005254185.1:c.1414_1415insT | XP_005254242.1:p.Ala472ValfsTer? | |
| NM_000499.5:c.1414_1415insT | NP_000490.1:p.Ala472ValfsTer? | |
| NM_001319216.2:c.1327_1328insT | NP_001306145.1:p.Ala443ValfsTer? | |
| NM_001319217.2:c.1414_1415insT MANE Select | NP_001306146.1:p.Ala472ValfsTer? |