Linked Data
dbSNP Id:
rs1576469588
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.138945778_138945779insT , CM000665.2:g.138945778_138945779insT | GRCh38 |
| NC_000003.11:g.138664620_138664621insT , CM000665.1:g.138664620_138664621insT | GRCh37 |
| NC_000003.10:g.140147310_140147311insT | NCBI36 |
| NG_012454.1:g.6362_6363insA | |
| NG_029796.1:g.3545_3546insT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648323.1:c.944_945insA MANE Select | ENSP00000497217.1:p.Ala316ArgfsTer? | |
| ENST00000330315.3:c.944_945insA | ENSP00000333188.3:p.Ala316ArgfsTer? | |
| NM_023067.3:c.944_945insA | NP_075555.1:p.Ala316ArgfsTer? | |
| NM_023067.4:c.944_945insA MANE Select | NP_075555.1:p.Ala316ArgfsTer? |