Linked Data
dbSNP Id:
rs1332158205
gnomAD v2:
5-127597363-C-CA
gnomAD v3:
5-128261671-C-CA
gnomAD v4:
5-128261671-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.128261671_128261672insA , CM000667.2:g.128261671_128261672insA | GRCh38 |
| NC_000005.9:g.127597363_127597364insA , CM000667.1:g.127597363_127597364insA | GRCh37 |
| NC_000005.8:g.127625262_127625263insA | NCBI36 |
| NG_008750.1:g.281372_281373insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262464.9:c.8364+64_8364+65insT MANE Select | ENSP00000262464.4:n.8364+64_8364+65insT | |
| ENST00000262464.8:c.8364+64_8364+65insT | ENSP00000262464.4:n.8364+64_8364+65insT | |
| ENST00000508053.5:c.8364+64_8364+65insT | ENSP00000424571.1:n.8364+64_8364+65insT | |
| ENST00000619499.4:c.8361+64_8361+65insT | ENSP00000482132.1:n.8361+64_8361+65insT | |
| NM_001999.3:c.8364+64_8364+65insT | NP_001990.2:n.8364+64_8364+65insT | |
| XM_017009228.2:c.8211+64_8211+65insT | XP_016864717.1:n.8211+64_8211+65insT | |
| NM_001999.4:c.8364+64_8364+65insT MANE Select | NP_001990.2:n.8364+64_8364+65insT |