Linked Data
ClinVar Variation Id:
31220
dbSNP Id:
rs367543062
ExAC:
5:37167148 C / T
gnomAD v2:
5-37167148-C-T
gnomAD v4:
5-37167046-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37167046C>T , CM000667.2:g.37167046C>T | GRCh38 |
| NC_000005.9:g.37167148C>T , CM000667.1:g.37167148C>T | GRCh37 |
| NC_000005.8:g.37202905C>T | NCBI36 |
| NG_032772.1:g.87383G>A | |
| NG_032772.2:g.87383G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651892.2:c.7400+1G>A MANE Select | ENSP00000498265.2:n.7400+1G>A | |
| ENST00000675149.1:n.520+1G>A | ||
| ENST00000425232.6:c.7400+1G>A | ENSP00000389014.2:n.7400+1G>A | |
| ENST00000508244.5:c.7400+1G>A | ENSP00000421690.1:n.7400+1G>A | |
| ENST00000509849.5:c.4412+1G>A | ENSP00000426337.1:n.4412+1G>A | |
| ENST00000511824.2:c.472+1G>A | ||
| ENST00000514429.5:c.4544+1G>A | ENSP00000424223.1:n.4544+1G>A | |
| NM_023073.3:c.7400+1G>A | NP_075561.3:n.7400+1G>A | |
| XM_005248345.2:c.7400+1G>A | XP_005248402.1:n.7400+1G>A | |
| XM_005248346.2:c.7397+1G>A | XP_005248403.1:n.7397+1G>A | |
| XM_005248347.2:c.7397+1G>A | XP_005248404.1:n.7397+1G>A | |
| XM_005248349.2:c.7397+1G>A | XP_005248406.1:n.7397+1G>A | |
| XM_005248350.2:c.7271+1G>A | XP_005248407.1:n.7271+1G>A | |
| XM_005248353.3:c.4043+1G>A | XP_005248410.1:n.4043+1G>A | |
| XM_006714489.2:c.7401G>A | XP_006714552.1:p.Arg2467= | |
| XM_006714491.2:c.1973+1G>A | XP_006714554.1:n.1973+1G>A | |
| XM_011514085.1:c.7400+1G>A | XP_011512387.1:n.7400+1G>A | |
| XM_011514086.1:c.7400+1G>A | XP_011512388.1:n.7400+1G>A | |
| XM_011514087.1:c.7400+1G>A | XP_011512389.1:n.7400+1G>A | |
| XM_011514088.1:c.7400+1G>A | XP_011512390.1:n.7400+1G>A | |
| XM_011514089.1:c.7400+1G>A | XP_011512391.1:n.7400+1G>A | |
| XM_011514090.1:c.7082+1G>A | XP_011512392.1:n.7082+1G>A | |
| XM_011514091.1:c.6728+1G>A | XP_011512393.1:n.6728+1G>A | |
| XM_011514092.1:c.7400+1G>A | XP_011512394.1:n.7400+1G>A | |
| XM_011514093.1:c.7400+1G>A | XP_011512395.1:n.7400+1G>A | |
| XM_011514094.1:c.4625+1G>A | XP_011512396.1:n.4625+1G>A | |
| XR_427661.2:n.7575+1G>A | ||
| XR_925644.1:n.7575+1G>A | ||
| XM_005248345.4:c.7400+1G>A | XP_005248402.1:n.7400+1G>A | |
| XM_005248346.4:c.7397+1G>A | XP_005248403.1:n.7397+1G>A | |
| XM_005248347.4:c.7397+1G>A | XP_005248404.1:n.7397+1G>A | |
| XM_005248349.4:c.7397+1G>A | XP_005248406.1:n.7397+1G>A | |
| XM_005248350.4:c.7271+1G>A | XP_005248407.1:n.7271+1G>A | |
| XM_006714491.3:c.1973+1G>A | XP_006714554.1:n.1973+1G>A | |
| XM_011514085.3:c.7400+1G>A | XP_011512387.1:n.7400+1G>A | |
| XM_011514086.3:c.7400+1G>A | XP_011512388.1:n.7400+1G>A | |
| XM_011514087.2:c.7400+1G>A | XP_011512389.1:n.7400+1G>A | |
| XM_011514088.2:c.7400+1G>A | XP_011512390.1:n.7400+1G>A | |
| XM_011514089.2:c.7400+1G>A | XP_011512391.1:n.7400+1G>A | |
| XM_011514090.3:c.7082+1G>A | XP_011512392.1:n.7082+1G>A | |
| XM_011514092.2:c.7400+1G>A | XP_011512394.1:n.7400+1G>A | |
| XM_011514094.2:c.4625+1G>A | XP_011512396.1:n.4625+1G>A | |
| XM_017009760.1:c.7211+1G>A | XP_016865249.1:n.7211+1G>A | |
| XM_017009761.2:c.7211+1G>A | XP_016865250.1:n.7211+1G>A | |
| XM_017009763.1:c.6407+1G>A | XP_016865252.1:n.6407+1G>A | |
| XM_017009765.1:c.6212+1G>A | XP_016865254.1:n.6212+1G>A | |
| XM_017009766.1:c.4043+1G>A | XP_016865255.1:n.4043+1G>A | |
| XM_024446183.1:c.7211+1G>A | XP_024301951.1:n.7211+1G>A | |
| XM_024446184.1:c.7082+1G>A | XP_024301952.1:n.7082+1G>A | |
| XM_024446185.1:c.6728+1G>A | XP_024301953.1:n.6728+1G>A | |
| XM_024446186.1:c.6407+1G>A | XP_024301954.1:n.6407+1G>A | |
| XR_001742208.1:n.7624+1G>A | ||
| XR_002956171.1:n.7624+1G>A | ||
| XR_925644.2:n.7624+1G>A | ||
| NM_001384732.1:c.7400+1G>A MANE Select | NP_001371661.1:n.7400+1G>A | |
| NM_023073.4:c.7400+1G>A | NP_075561.3:n.7400+1G>A |