Linked Data
dbSNP Id:
rs372825557
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116987_19116988insGGA , CM000669.2:g.19116987_19116988insGGA | GRCh38 |
| NC_000007.13:g.19156610_19156611insGGA , CM000669.1:g.19156610_19156611insGGA | GRCh37 |
| NC_000007.12:g.19123135_19123136insGGA | NCBI36 |
| NG_008114.1:g.5686_5687insCCT | |
| NG_008114.2:g.5686_5687insCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.335_336insCCT MANE Select | ENSP00000242261.5:p.Met112delinsIleLeu | |
| ENST00000242261.5:c.335_336insCCT | ENSP00000242261.5:p.Met112delinsIleLeu | |
| ENST00000354571.5:c.132_133insCCT | ||
| NM_000474.3:c.335_336insCCT | NP_000465.1:p.Met112delinsIleLeu | |
| XM_011515496.1:c.335_336insCCT | XP_011513798.1:p.Met112delinsIleLeu | |
| NR_149001.1:n.686_687insCCT | ||
| NM_000474.4:c.335_336insCCT MANE Select | NP_000465.1:p.Met112delinsIleLeu | |
| NR_149001.2:n.650_651insCCT |