Linked Data
ClinVar Variation Id:
1363547
ClinVar RCV Id:
RCV001902325
dbSNP Id:
rs765750324
ExAC:
5:37154074 C / T
gnomAD v2:
5-37154074-C-T
gnomAD v3:
5-37153972-C-T
gnomAD v4:
5-37153972-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37153972C>T , CM000667.2:g.37153972C>T | GRCh38 |
| NC_000005.9:g.37154074C>T , CM000667.1:g.37154074C>T | GRCh37 |
| NC_000005.8:g.37189831C>T | NCBI36 |
| NG_032772.1:g.100457G>A | |
| NG_032772.2:g.100457G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510830.2:n.1140G>A | ||
| ENST00000651892.2:c.8141G>A MANE Select | ENSP00000498265.2:p.Arg2714Gln | |
| ENST00000425232.6:c.7979G>A | ENSP00000389014.2:p.Arg2660Gln | |
| ENST00000508244.5:c.7979G>A | ENSP00000421690.1:p.Arg2660Gln | |
| ENST00000509849.5:c.5153G>A | ENSP00000426337.1:p.Arg1718Gln | |
| ENST00000509957.5:n.383G>A | ||
| ENST00000511210.5:n.432G>A | ||
| ENST00000511824.2:c.1255G>A | ||
| ENST00000514429.5:c.5177G>A | ENSP00000424223.1:p.Arg1726Gln | |
| ENST00000515380.1:n.393G>A | ||
| NM_023073.3:c.7979G>A | NP_075561.3:p.Arg2660Gln | |
| XM_005248345.2:c.8141G>A | XP_005248402.1:p.Arg2714Gln | |
| XM_005248346.2:c.8138G>A | XP_005248403.1:p.Arg2713Gln | |
| XM_005248347.2:c.8138G>A | XP_005248404.1:p.Arg2713Gln | |
| XM_005248349.2:c.8030G>A | XP_005248406.1:p.Arg2677Gln | |
| XM_005248350.2:c.8012G>A | XP_005248407.1:p.Arg2671Gln | |
| XM_005248353.3:c.4784G>A | XP_005248410.1:p.Arg1595Gln | |
| XM_006714489.2:c.8141G>A | XP_006714552.1:p.Arg2714Gln | |
| XM_006714491.2:c.2714G>A | XP_006714554.1:p.Arg905Gln | |
| XM_011514085.1:c.8141G>A | XP_011512387.1:p.Arg2714Gln | |
| XM_011514086.1:c.8141G>A | XP_011512388.1:p.Arg2714Gln | |
| XM_011514087.1:c.8087G>A | XP_011512389.1:p.Arg2696Gln | |
| XM_011514088.1:c.8033G>A | XP_011512390.1:p.Arg2678Gln | |
| XM_011514089.1:c.8141G>A | XP_011512391.1:p.Arg2714Gln | |
| XM_011514090.1:c.7823G>A | XP_011512392.1:p.Arg2608Gln | |
| XM_011514091.1:c.7469G>A | XP_011512393.1:p.Arg2490Gln | |
| XM_011514092.1:c.8141G>A | XP_011512394.1:p.Arg2714Gln | |
| XM_011514094.1:c.5366G>A | XP_011512396.1:p.Arg1789Gln | |
| XR_427661.2:n.8316G>A | ||
| XR_925644.1:n.8316G>A | ||
| XM_005248345.4:c.8141G>A | XP_005248402.1:p.Arg2714Gln | |
| XM_005248346.4:c.8138G>A | XP_005248403.1:p.Arg2713Gln | |
| XM_005248347.4:c.8138G>A | XP_005248404.1:p.Arg2713Gln | |
| XM_005248349.4:c.8030G>A | XP_005248406.1:p.Arg2677Gln | |
| XM_005248350.4:c.8012G>A | XP_005248407.1:p.Arg2671Gln | |
| XM_006714491.3:c.2714G>A | XP_006714554.1:p.Arg905Gln | |
| XM_011514085.3:c.8141G>A | XP_011512387.1:p.Arg2714Gln | |
| XM_011514086.3:c.8141G>A | XP_011512388.1:p.Arg2714Gln | |
| XM_011514087.2:c.8087G>A | XP_011512389.1:p.Arg2696Gln | |
| XM_011514088.2:c.8033G>A | XP_011512390.1:p.Arg2678Gln | |
| XM_011514089.2:c.8141G>A | XP_011512391.1:p.Arg2714Gln | |
| XM_011514090.3:c.7823G>A | XP_011512392.1:p.Arg2608Gln | |
| XM_011514092.2:c.8141G>A | XP_011512394.1:p.Arg2714Gln | |
| XM_011514094.2:c.5366G>A | XP_011512396.1:p.Arg1789Gln | |
| XM_017009760.1:c.7952G>A | XP_016865249.1:p.Arg2651Gln | |
| XM_017009761.2:c.7952G>A | XP_016865250.1:p.Arg2651Gln | |
| XM_017009763.1:c.7148G>A | XP_016865252.1:p.Arg2383Gln | |
| XM_017009765.1:c.6953G>A | XP_016865254.1:p.Arg2318Gln | |
| XM_017009766.1:c.4784G>A | XP_016865255.1:p.Arg1595Gln | |
| XM_024446183.1:c.7952G>A | XP_024301951.1:p.Arg2651Gln | |
| XM_024446184.1:c.7823G>A | XP_024301952.1:p.Arg2608Gln | |
| XM_024446185.1:c.7469G>A | XP_024301953.1:p.Arg2490Gln | |
| XM_024446186.1:c.7148G>A | XP_024301954.1:p.Arg2383Gln | |
| XR_001742208.1:n.8310G>A | ||
| XR_002956171.1:n.8256G>A | ||
| XR_925644.2:n.8365G>A | ||
| NM_001384732.1:c.8141G>A MANE Select | NP_001371661.1:p.Arg2714Gln | |
| NM_023073.4:c.7979G>A | NP_075561.3:p.Arg2660Gln |