Linked Data
ClinVar Variation Id:
353420
dbSNP Id:
rs144427399
ExAC:
5:37138903 T / C
gnomAD v2:
5-37138903-T-C
gnomAD v3:
5-37138801-T-C
gnomAD v4:
5-37138801-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37138801T>C , CM000667.2:g.37138801T>C | GRCh38 |
| NC_000005.9:g.37138903T>C , CM000667.1:g.37138903T>C | GRCh37 |
| NC_000005.8:g.37174660T>C | NCBI36 |
| NG_032772.1:g.115628A>G | |
| NG_032772.2:g.115628A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510830.2:n.1710A>G | ||
| ENST00000651892.2:c.8711A>G MANE Select | ENSP00000498265.2:p.Asp2904Gly | |
| ENST00000425232.6:c.8549A>G | ENSP00000389014.2:p.Asp2850Gly | |
| ENST00000504716.1:n.296A>G | ||
| ENST00000505121.1:n.411A>G | ||
| ENST00000508244.5:c.8549A>G | ENSP00000421690.1:p.Asp2850Gly | |
| ENST00000508405.1:n.412A>G | ||
| ENST00000509849.5:c.5692A>G | ENSP00000426337.1:n.5692A>G | |
| ENST00000509957.5:n.3892A>G | ||
| ENST00000512288.5:n.260A>G | ||
| ENST00000514429.5:c.5747A>G | ENSP00000424223.1:p.Asp1916Gly | |
| NM_023073.3:c.8549A>G | NP_075561.3:p.Asp2850Gly | |
| XM_005248345.2:c.8711A>G | XP_005248402.1:p.Asp2904Gly | |
| XM_005248346.2:c.8708A>G | XP_005248403.1:p.Asp2903Gly | |
| XM_005248347.2:c.8708A>G | XP_005248404.1:p.Asp2903Gly | |
| XM_005248349.2:c.8600A>G | XP_005248406.1:p.Asp2867Gly | |
| XM_005248350.2:c.8582A>G | XP_005248407.1:p.Asp2861Gly | |
| XM_005248353.3:c.5354A>G | XP_005248410.1:p.Asp1785Gly | |
| XM_006714489.2:c.8711A>G | XP_006714552.1:p.Asp2904Gly | |
| XM_006714491.2:c.3284A>G | XP_006714554.1:p.Asp1095Gly | |
| XM_011514085.1:c.8711A>G | XP_011512387.1:p.Asp2904Gly | |
| XM_011514086.1:c.8711A>G | XP_011512388.1:p.Asp2904Gly | |
| XM_011514087.1:c.8657A>G | XP_011512389.1:p.Asp2886Gly | |
| XM_011514088.1:c.8603A>G | XP_011512390.1:p.Asp2868Gly | |
| XM_011514089.1:c.8711A>G | XP_011512391.1:p.Asp2904Gly | |
| XM_011514090.1:c.8393A>G | XP_011512392.1:p.Asp2798Gly | |
| XM_011514091.1:c.8039A>G | XP_011512393.1:p.Asp2680Gly | |
| XM_011514092.1:c.8711A>G | XP_011512394.1:p.Asp2904Gly | |
| XM_011514094.1:c.5936A>G | XP_011512396.1:p.Asp1979Gly | |
| XR_427661.2:n.8886A>G | ||
| XR_925644.1:n.8886A>G | ||
| XM_005248345.4:c.8711A>G | XP_005248402.1:p.Asp2904Gly | |
| XM_005248346.4:c.8708A>G | XP_005248403.1:p.Asp2903Gly | |
| XM_005248347.4:c.8708A>G | XP_005248404.1:p.Asp2903Gly | |
| XM_005248349.4:c.8600A>G | XP_005248406.1:p.Asp2867Gly | |
| XM_005248350.4:c.8582A>G | XP_005248407.1:p.Asp2861Gly | |
| XM_006714491.3:c.3284A>G | XP_006714554.1:p.Asp1095Gly | |
| XM_011514085.3:c.8711A>G | XP_011512387.1:p.Asp2904Gly | |
| XM_011514086.3:c.8711A>G | XP_011512388.1:p.Asp2904Gly | |
| XM_011514087.2:c.8657A>G | XP_011512389.1:p.Asp2886Gly | |
| XM_011514088.2:c.8603A>G | XP_011512390.1:p.Asp2868Gly | |
| XM_011514089.2:c.8711A>G | XP_011512391.1:p.Asp2904Gly | |
| XM_011514090.3:c.8393A>G | XP_011512392.1:p.Asp2798Gly | |
| XM_011514092.2:c.8711A>G | XP_011512394.1:p.Asp2904Gly | |
| XM_011514094.2:c.5936A>G | XP_011512396.1:p.Asp1979Gly | |
| XM_017009760.1:c.8522A>G | XP_016865249.1:p.Asp2841Gly | |
| XM_017009761.2:c.8522A>G | XP_016865250.1:p.Asp2841Gly | |
| XM_017009763.1:c.7718A>G | XP_016865252.1:p.Asp2573Gly | |
| XM_017009765.1:c.7523A>G | XP_016865254.1:p.Asp2508Gly | |
| XM_017009766.1:c.5354A>G | XP_016865255.1:p.Asp1785Gly | |
| XM_024446183.1:c.8522A>G | XP_024301951.1:p.Asp2841Gly | |
| XM_024446184.1:c.8393A>G | XP_024301952.1:p.Asp2798Gly | |
| XM_024446185.1:c.8039A>G | XP_024301953.1:p.Asp2680Gly | |
| XM_024446186.1:c.7718A>G | XP_024301954.1:p.Asp2573Gly | |
| XR_001742208.1:n.8880A>G | ||
| XR_925644.2:n.8935A>G | ||
| NM_001384732.1:c.8711A>G MANE Select | NP_001371661.1:p.Asp2904Gly | |
| NM_023073.4:c.8549A>G | NP_075561.3:p.Asp2850Gly |