Linked Data
dbSNP Id:
rs764516904
gnomAD v2:
5-74893572-G-A
gnomAD v3:
5-75597747-G-A
gnomAD v4:
5-75597747-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.75597747G>A , CM000667.2:g.75597747G>A | GRCh38 |
| NC_000005.9:g.74893572G>A , CM000667.1:g.74893572G>A | GRCh37 |
| NC_000005.8:g.74929328G>A | NCBI36 |
| NG_051590.1:g.90998G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000241436.9:c.2486G>A MANE Select | ENSP00000241436.4:p.Gly829Asp | |
| ENST00000241436.8:c.2486G>A | ENSP00000241436.4:p.Gly829Asp | |
| ENST00000502567.1:n.331G>A | ||
| ENST00000503479.6:c.*1009G>A | ENSP00000421997.2:n.*1009G>A | |
| ENST00000504026.5:c.1357G>A | ENSP00000425075.1:p.Val453Ile | |
| ENST00000505069.1:n.66G>A | ||
| ENST00000505975.5:c.2600G>A | ENSP00000424859.1:n.2600G>A | |
| ENST00000506928.5:n.2609G>A | ||
| ENST00000508526.5:c.1892G>A | ENSP00000426853.1:p.Gly631Asp | |
| ENST00000509126.2:c.2314G>A | ENSP00000423532.1:n.2314G>A | |
| ENST00000510815.6:c.*1009G>A | ENSP00000422094.2:n.*1009G>A | |
| ENST00000511527.5:c.1471G>A | ENSP00000420997.1:n.1471G>A | |
| ENST00000514141.5:c.*1105G>A | ENSP00000423526.1:n.*1105G>A | |
| NM_016218.2:c.2486G>A | NP_057302.1:p.Gly829Asp | |
| XM_005248534.3:c.2528G>A | XP_005248591.1:p.Gly843Asp | |
| XM_006714652.2:c.1241G>A | XP_006714715.1:p.Gly414Asp | |
| XM_011543463.1:c.2528G>A | XP_011541765.1:p.Gly843Asp | |
| XM_011543464.1:c.2528G>A | XP_011541766.1:p.Gly843Asp | |
| XM_011543465.1:c.2528G>A | XP_011541767.1:p.Gly843Asp | |
| XM_011543466.1:c.2528G>A | XP_011541768.1:p.Gly843Asp | |
| XM_011543467.1:c.2258G>A | XP_011541769.1:p.Gly753Asp | |
| XR_241784.1:n.2494G>A | ||
| XR_948273.1:n.2678G>A | ||
| NM_001345921.1:c.2288G>A | NP_001332850.1:p.Gly763Asp | |
| NM_001345922.1:c.2216G>A | NP_001332851.1:p.Gly739Asp | |
| NM_016218.3:c.2486G>A | NP_057302.1:p.Gly829Asp | |
| NR_144315.1:n.2492G>A | ||
| XM_005248534.5:c.2528G>A | XP_005248591.1:p.Gly843Asp | |
| XM_006714652.4:c.1241G>A | XP_006714715.1:p.Gly414Asp | |
| XM_011543463.3:c.2528G>A | XP_011541765.1:p.Gly843Asp | |
| XM_011543464.3:c.2528G>A | XP_011541766.1:p.Gly843Asp | |
| XM_011543467.3:c.2258G>A | XP_011541769.1:p.Gly753Asp | |
| XM_017009559.2:c.2486G>A | XP_016865048.1:p.Gly829Asp | |
| XM_017009560.2:c.2486G>A | XP_016865049.1:p.Gly829Asp | |
| XM_017009561.2:c.2330G>A | XP_016865050.1:p.Gly777Asp | |
| XM_017009563.2:c.2216G>A | XP_016865052.1:p.Gly739Asp | |
| XR_001742105.2:n.2976G>A | ||
| XR_001742107.2:n.3060G>A | ||
| XR_001742108.2:n.2594G>A | ||
| XR_241784.3:n.3018G>A | ||
| XR_948273.3:n.2678G>A | ||
| NM_001345921.2:c.2288G>A | NP_001332850.1:p.Gly763Asp | |
| NM_001345922.2:c.2216G>A | NP_001332851.1:p.Gly739Asp | |
| NM_001387110.2:c.2477G>A | NP_001374039.1:p.Gly826Asp | |
| NM_001387111.2:c.2528G>A | NP_001374040.1:p.Gly843Asp | |
| NM_001387113.2:c.2486G>A | NP_001374042.1:p.Gly829Asp | |
| NM_016218.5:c.2486G>A | NP_057302.1:p.Gly829Asp | |
| NR_144315.2:n.2351G>A | ||
| NR_170559.2:n.2340G>A | ||
| NR_170560.2:n.2572G>A | ||
| NM_001345921.3:c.2288G>A | NP_001332850.1:p.Gly763Asp | |
| NM_001345922.3:c.2216G>A | NP_001332851.1:p.Gly739Asp | |
| NM_001387110.3:c.2477G>A | NP_001374039.1:p.Gly826Asp | |
| NM_001387111.3:c.2528G>A | NP_001374040.1:p.Gly843Asp | |
| NM_001387113.3:c.2486G>A | NP_001374042.1:p.Gly829Asp | |
| NM_001395893.1:c.2216G>A | NP_001382822.1:p.Gly739Asp | |
| NM_001395894.1:c.2528G>A | NP_001382823.1:p.Gly843Asp | |
| NM_001395897.1:c.2525G>A | NP_001382826.1:p.Gly842Asp | |
| NM_001395899.1:c.2333G>A | NP_001382828.1:p.Gly778Asp | |
| NM_001395900.1:c.2288G>A | NP_001382829.1:p.Gly763Asp | |
| NM_001395901.1:c.2246G>A | NP_001382830.1:p.Gly749Asp | |
| NM_001395902.1:c.2216G>A | NP_001382831.1:p.Gly739Asp | |
| NM_016218.6:c.2486G>A MANE Select | NP_057302.1:p.Gly829Asp | |
| NR_144315.3:n.2351G>A | ||
| NR_170559.3:n.2340G>A | ||
| NR_170560.3:n.2572G>A |