Linked Data
dbSNP Id:
rs2143540430
gnomAD v4:
17-12992940-G-A
MyVariant Identifiers:
chr17:g.12896257G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.12992940G>A , CM000679.2:g.12992940G>A | GRCh38 |
| NC_000017.10:g.12896257G>A , CM000679.1:g.12896257G>A | GRCh37 |
| NC_000017.9:g.12836982G>A | NCBI36 |
| NG_015808.1:g.30125C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338034.9:c.2359C>T MANE Select | ENSP00000337445.4:p.Leu787= | |
| ENST00000338034.8:c.2359C>T | ENSP00000337445.4:p.Leu787= | |
| ENST00000395962.6:c.2302C>T | ENSP00000379291.1:p.Leu768= | |
| ENST00000426905.7:c.2239C>T | ENSP00000405223.3:p.Leu747= | |
| ENST00000465825.5:n.2246C>T | ||
| ENST00000480891.5:n.2188C>T | ||
| ENST00000484122.5:n.3189C>T | ||
| ENST00000487229.6:n.1905C>T | ||
| ENST00000584650.5:c.1758C>T | ||
| NM_001165962.1:c.2239C>T | NP_001159434.1:p.Leu747= | |
| NM_018127.6:c.2359C>T | NP_060597.4:p.Leu787= | |
| NM_173717.1:c.2356C>T | NP_776065.1:p.Leu786= | |
| XM_024450850.1:c.2518C>T | XP_024306618.1:p.Leu840= | |
| XM_024450851.1:c.2440C>T | XP_024306619.1:p.Leu814= | |
| XM_024450852.1:c.2437C>T | XP_024306620.1:p.Leu813= | |
| XM_024450853.1:c.2434C>T | XP_024306621.1:p.Leu812= | |
| XM_024450854.1:c.2398C>T | XP_024306622.1:p.Leu800= | |
| XM_024450855.1:c.2317C>T | XP_024306623.1:p.Leu773= | |
| XM_024450856.1:c.2236C>T | XP_024306624.1:p.Leu746= | |
| XM_024450857.1:c.2236C>T | XP_024306625.1:p.Leu746= | |
| XM_024450858.1:c.2155C>T | XP_024306626.1:p.Leu719= | |
| XM_024450859.1:c.2152C>T | XP_024306627.1:p.Leu718= | |
| XM_024450860.1:c.2077C>T | XP_024306628.1:p.Leu693= | |
| XM_024450861.1:c.2077C>T | XP_024306629.1:p.Leu693= | |
| XM_024450862.1:c.2074C>T | XP_024306630.1:p.Leu692= | |
| NM_018127.7:c.2359C>T MANE Select | NP_060597.4:p.Leu787= | |
| NM_001165962.2:c.2239C>T | NP_001159434.1:p.Leu747= | |
| NM_173717.2:c.2356C>T | NP_776065.1:p.Leu786= |