Linked Data
dbSNP Id:
rs754015480
ExAC:
5:177035879 A / AC
gnomAD v2:
5-177035879-A-AC
gnomAD v3:
5-177608878-A-AC
gnomAD v4:
5-177608878-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.177608878_177608879insC , CM000667.2:g.177608878_177608879insC | GRCh38 |
| NC_000005.9:g.177035879_177035880insC , CM000667.1:g.177035879_177035880insC | GRCh37 |
| NC_000005.8:g.176968485_176968486insC | NCBI36 |
| NG_015977.1:g.13761_13762insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000029410.10:c.724-32_724-31insC MANE Select | ENSP00000029410.5:n.724-32_724-31insC | |
| ENST00000029410.9:c.724-32_724-31insC | ENSP00000029410.5:n.724-32_724-31insC | |
| ENST00000505145.1:n.1822-32_1822-31insC | ||
| ENST00000505433.5:c.*230-32_*230-31insC | ENSP00000425591.1:n.*230-32_*230-31insC | |
| ENST00000515353.1:n.1514_1515insC | ||
| NM_007255.2:c.724-32_724-31insC | NP_009186.1:n.724-32_724-31insC | |
| XM_005265805.2:c.382-32_382-31insC | XP_005265862.1:n.382-32_382-31insC | |
| XM_006714816.2:c.244-32_244-31insC | XP_006714879.1:n.244-32_244-31insC | |
| XM_011534421.1:c.382-32_382-31insC | XP_011532723.1:n.382-32_382-31insC | |
| XM_006714816.4:c.244-32_244-31insC | XP_006714879.1:n.244-32_244-31insC | |
| XM_017008999.2:c.382-32_382-31insC | XP_016864488.1:n.382-32_382-31insC | |
| NM_007255.3:c.724-32_724-31insC MANE Select | NP_009186.1:n.724-32_724-31insC |