Linked Data
dbSNP Id:
rs562555844
gnomAD v3:
12-80484408-T-TTTTCTTTCTTTCTTTC
gnomAD v4:
12-80484408-T-TTTTCTTTCTTTCTTTC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.80484415_80484430dup , CM000674.2:g.80484415_80484430dup | GRCh38 |
| NC_000012.11:g.80878194_80878209dup , CM000674.1:g.80878194_80878209dup | GRCh37 |
| NC_000012.10:g.79402325_79402340dup | NCBI36 |
| NG_034052.1:g.45070_45085dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644991.3:c.1187-18_1187-3dup MANE Select | ENSP00000495607.1:n.1187-18_1187-3dup | |
| ENST00000614701.4:c.1187-18_1187-3dup | ENSP00000482885.1:n.1187-18_1187-3dup | |
| ENST00000616559.4:c.1313-18_1313-3dup | ENSP00000483259.1:n.1313-18_1313-3dup | |
| NM_001145026.1:c.1187-18_1187-3dup | NP_001138498.1:n.1187-18_1187-3dup | |
| XM_011538290.1:c.1187-18_1187-3dup | XP_011536592.1:n.1187-18_1187-3dup | |
| XM_017019273.1:c.1853-18_1853-3dup | XP_016874762.1:n.1853-18_1853-3dup | |
| XM_017019274.1:c.1853-18_1853-3dup | XP_016874763.1:n.1853-18_1853-3dup | |
| XM_017019275.1:c.1853-18_1853-3dup | XP_016874764.1:n.1853-18_1853-3dup | |
| XR_001748688.1:n.1990-18_1990-3dup | ||
| XR_001748689.1:n.1990-18_1990-3dup | ||
| NM_001145026.2:c.1187-18_1187-3dup MANE Select | NP_001138498.1:n.1187-18_1187-3dup |