Linked Data
dbSNP Id:
rs1241309040
gnomAD v2:
6-160560624-T-TC
gnomAD v3:
6-160139592-T-TC
gnomAD v4:
6-160139592-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160139592_160139593insC , CM000668.2:g.160139592_160139593insC | GRCh38 |
| NC_000006.11:g.160560624_160560625insC , CM000668.1:g.160560624_160560625insC | GRCh37 |
| NC_000006.10:g.160480614_160480615insC | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366963.9:c.1062-61_1062-60insC MANE Select | ENSP00000355930.4:n.1062-61_1062-60insC | |
| ENST00000324965.8:c.1062-61_1062-60insC | ENSP00000318103.4:n.1062-61_1062-60insC | |
| ENST00000366963.8:c.1062-61_1062-60insC | ENSP00000355930.4:n.1062-61_1062-60insC | |
| ENST00000457470.6:c.1062-61_1062-60insC | ENSP00000409557.2:n.1062-61_1062-60insC | |
| ENST00000460902.2:c.1061+2942_1061+2943insC | ENSP00000439274.1:n.1061+2942_1061+2943insC | |
| ENST00000539263.5:c.*535-61_*535-60insC | ENSP00000443245.1:n.*535-61_*535-60insC | |
| NM_003057.2:c.1062-61_1062-60insC | NP_003048.1:n.1062-61_1062-60insC | |
| NM_153187.1:c.1062-61_1062-60insC | NP_694857.1:n.1062-61_1062-60insC | |
| XM_005267102.3:c.1062-61_1062-60insC | XP_005267159.1:n.1062-61_1062-60insC | |
| XM_005267103.1:c.1062-61_1062-60insC | XP_005267160.1:n.1062-61_1062-60insC | |
| XM_005267104.3:c.486-61_486-60insC | XP_005267161.1:n.486-61_486-60insC | |
| XM_005267105.3:c.486-61_486-60insC | XP_005267162.1:n.486-61_486-60insC | |
| XM_006715552.1:c.1062-61_1062-60insC | XP_006715615.1:n.1062-61_1062-60insC | |
| XM_011536074.1:c.486-61_486-60insC | XP_011534376.1:n.486-61_486-60insC | |
| XM_005267102.5:c.1062-61_1062-60insC | XP_005267159.1:n.1062-61_1062-60insC | |
| XM_005267103.2:c.1062-61_1062-60insC | XP_005267160.1:n.1062-61_1062-60insC | |
| XM_005267104.5:c.486-61_486-60insC | XP_005267161.1:n.486-61_486-60insC | |
| XM_005267105.5:c.486-61_486-60insC | XP_005267162.1:n.486-61_486-60insC | |
| XM_006715552.2:c.1062-61_1062-60insC | XP_006715615.1:n.1062-61_1062-60insC | |
| XM_011536074.3:c.486-61_486-60insC | XP_011534376.1:n.486-61_486-60insC | |
| NM_003057.3:c.1062-61_1062-60insC MANE Select | NP_003048.1:n.1062-61_1062-60insC | |
| NM_153187.2:c.1062-61_1062-60insC | NP_694857.1:n.1062-61_1062-60insC |