Linked Data
dbSNP Id:
rs1036819
gnomAD v2:
8-135611945-A-C
gnomAD v3:
8-134599702-A-C
gnomAD v4:
8-134599702-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.134599702A>C , CM000670.2:g.134599702A>C | GRCh38 |
| NC_000008.10:g.135611945A>C , CM000670.1:g.135611945A>C | GRCh37 |
| NC_000008.9:g.135681127A>C | NCBI36 |
| NG_016356.1:g.118348T>G | |
| NG_016356.2:g.118348T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377838.8:c.2475+734T>G (ZFAT) MANE Select | ENSP00000367069.3:n.2475+734T>G | |
| ENST00000377838.7:c.2475+734T>G (ZFAT) | ENSP00000367069.3:n.2475+734T>G | |
| ENST00000429442.6:c.2439+734T>G (ZFAT) | ENSP00000394501.2:n.2439+734T>G | |
| ENST00000519827.1:c.366+28T>G (ZFAT) | ||
| ENST00000520214.5:c.2439+734T>G (ZFAT) | ENSP00000428483.1:n.2439+734T>G | |
| ENST00000520356.5:c.2439+734T>G (ZFAT) | ENSP00000427879.1:n.2439+734T>G | |
| ENST00000520727.5:c.2439+734T>G (ZFAT) | ENSP00000427831.1:n.2439+734T>G | |
| ENST00000522974.5:n.3314T>G (ZFAT) | ||
| ENST00000523243.5:c.2475+734T>G (ZFAT) | ENSP00000429930.1:n.2475+734T>G | |
| ENST00000523399.5:c.2289+734T>G (ZFAT) | ENSP00000429091.1:n.2289+734T>G | |
| ENST00000523924.5:c.*2457+734T>G (ZFAT) | ENSP00000429050.1:n.*2457+734T>G | |
| NM_001029939.3:c.2439+734T>G (ZFAT) | NP_001025110.2:n.2439+734T>G | |
| NM_001167583.2:c.2439+734T>G (ZFAT) | NP_001161055.1:n.2439+734T>G | |
| NM_001174157.1:c.2289+734T>G (ZFAT) | NP_001167628.1:n.2289+734T>G | |
| NM_001174158.1:c.2439+734T>G (ZFAT) | NP_001167629.1:n.2439+734T>G | |
| NM_001289394.1:c.2439+734T>G (ZFAT) | NP_001276323.1:n.2439+734T>G | |
| NM_020863.3:c.2475+734T>G (ZFAT) | NP_065914.2:n.2475+734T>G | |
| NR_002438.1:n.506-554A>C (ZFAT-AS1) | ||
| NR_110323.1:n.2661+734T>G (ZFAT) | ||
| XM_011517203.1:c.2439+734T>G (ZFAT) | XP_011515505.1:n.2439+734T>G | |
| XM_011517204.1:c.2289+734T>G (ZFAT) | XP_011515506.1:n.2289+734T>G | |
| XM_011517206.1:c.2439+734T>G (ZFAT) | XP_011515508.1:n.2439+734T>G | |
| XR_928343.1:n.2456+734T>G (ZFAT) | ||
| XM_011517204.2:c.2289+734T>G (ZFAT) | XP_011515506.1:n.2289+734T>G | |
| XM_011517206.2:c.2439+734T>G (ZFAT) | XP_011515508.1:n.2439+734T>G | |
| XM_017013716.1:c.2439+734T>G (ZFAT) | XP_016869205.1:n.2439+734T>G | |
| XR_001745568.1:n.2456+734T>G (ZFAT) | ||
| XR_001745569.1:n.2456+734T>G (ZFAT) | ||
| XR_001745570.1:n.2589+28T>G (ZFAT) | ||
| XR_928343.2:n.2456+734T>G (ZFAT) | ||
| NM_020863.4:c.2475+734T>G (ZFAT) MANE Select | NP_065914.2:n.2475+734T>G | |
| NM_001029939.4:c.2439+734T>G (ZFAT) | NP_001025110.2:n.2439+734T>G | |
| NM_001167583.3:c.2439+734T>G (ZFAT) | NP_001161055.1:n.2439+734T>G | |
| NM_001174157.2:c.2289+734T>G (ZFAT) | NP_001167628.1:n.2289+734T>G | |
| NM_001174158.2:c.2439+734T>G (ZFAT) | NP_001167629.1:n.2439+734T>G | |
| NM_001289394.2:c.2439+734T>G (ZFAT) | NP_001276323.1:n.2439+734T>G | |
| NR_110323.2:n.2643+734T>G (ZFAT) |