Linked Data
dbSNP Id:
rs1185052407
gnomAD v2:
12-65632574-GATT-G
gnomAD v3:
12-65238794-GATT-G
gnomAD v4:
12-65238794-GATT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65238798_65238800del , CM000674.2:g.65238798_65238800del | GRCh38 |
| NC_000012.11:g.65632578_65632580del , CM000674.1:g.65632578_65632580del | GRCh37 |
| NC_000012.10:g.63918845_63918847del | NCBI36 |
| NG_016210.1:g.74228_74230del | |
| NG_016210.2:g.74228_74230del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308330.3:c.1905_1907del MANE Select | ENSP00000308369.2:p.Leu636del | |
| ENST00000308330.2:c.1905_1907del | ENSP00000308369.2:p.Leu636del | |
| NM_001167614.1:c.1902_1904del | NP_001161086.1:p.Leu635del | |
| NM_014319.4:c.1905_1907del | NP_055134.2:p.Leu636del | |
| NM_014319.5:c.1905_1907del MANE Select | NP_055134.2:p.Leu636del | |
| NM_001167614.2:c.1902_1904del | NP_001161086.1:p.Leu635del |