Linked Data
ClinVar Variation Id:
197492
dbSNP Id:
rs151279194
ExAC:
5:37142583 C / G
gnomAD v2:
5-37142583-C-G
gnomAD v3:
5-37142481-C-G
gnomAD v4:
5-37142481-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37142481C>G , CM000667.2:g.37142481C>G | GRCh38 |
| NC_000005.9:g.37142583C>G , CM000667.1:g.37142583C>G | GRCh37 |
| NC_000005.8:g.37178340C>G | NCBI36 |
| NG_032772.1:g.111948G>C | |
| NG_032772.2:g.111948G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510830.2:n.1461-1G>C | ||
| ENST00000651892.2:c.8462-1G>C MANE Select | ENSP00000498265.2:n.8462-1G>C | |
| ENST00000425232.6:c.8300-1G>C | ENSP00000389014.2:n.8300-1G>C | |
| ENST00000505121.1:n.161G>C | ||
| ENST00000508244.5:c.8300-1G>C | ENSP00000421690.1:n.8300-1G>C | |
| ENST00000508405.1:n.194-1G>C | ||
| ENST00000509849.5:c.5474-1G>C | ENSP00000426337.1:n.5474-1G>C | |
| ENST00000509957.5:n.704-1G>C | ||
| ENST00000512288.5:n.10G>C | ||
| ENST00000514429.5:c.5498-1G>C | ENSP00000424223.1:n.5498-1G>C | |
| NM_023073.3:c.8300-1G>C | NP_075561.3:n.8300-1G>C | |
| XM_005248345.2:c.8462-1G>C | XP_005248402.1:n.8462-1G>C | |
| XM_005248346.2:c.8459-1G>C | XP_005248403.1:n.8459-1G>C | |
| XM_005248347.2:c.8459-1G>C | XP_005248404.1:n.8459-1G>C | |
| XM_005248349.2:c.8351-1G>C | XP_005248406.1:n.8351-1G>C | |
| XM_005248350.2:c.8333-1G>C | XP_005248407.1:n.8333-1G>C | |
| XM_005248353.3:c.5105-1G>C | XP_005248410.1:n.5105-1G>C | |
| XM_006714489.2:c.8462-1G>C | XP_006714552.1:n.8462-1G>C | |
| XM_006714491.2:c.3035-1G>C | XP_006714554.1:n.3035-1G>C | |
| XM_011514085.1:c.8462-1G>C | XP_011512387.1:n.8462-1G>C | |
| XM_011514086.1:c.8462-1G>C | XP_011512388.1:n.8462-1G>C | |
| XM_011514087.1:c.8408-1G>C | XP_011512389.1:n.8408-1G>C | |
| XM_011514088.1:c.8354-1G>C | XP_011512390.1:n.8354-1G>C | |
| XM_011514089.1:c.8462-1G>C | XP_011512391.1:n.8462-1G>C | |
| XM_011514090.1:c.8144-1G>C | XP_011512392.1:n.8144-1G>C | |
| XM_011514091.1:c.7790-1G>C | XP_011512393.1:n.7790-1G>C | |
| XM_011514092.1:c.8462-1G>C | XP_011512394.1:n.8462-1G>C | |
| XM_011514094.1:c.5687-1G>C | XP_011512396.1:n.5687-1G>C | |
| XR_427661.2:n.8637-1G>C | ||
| XR_925644.1:n.8637-1G>C | ||
| XM_005248345.4:c.8462-1G>C | XP_005248402.1:n.8462-1G>C | |
| XM_005248346.4:c.8459-1G>C | XP_005248403.1:n.8459-1G>C | |
| XM_005248347.4:c.8459-1G>C | XP_005248404.1:n.8459-1G>C | |
| XM_005248349.4:c.8351-1G>C | XP_005248406.1:n.8351-1G>C | |
| XM_005248350.4:c.8333-1G>C | XP_005248407.1:n.8333-1G>C | |
| XM_006714491.3:c.3035-1G>C | XP_006714554.1:n.3035-1G>C | |
| XM_011514085.3:c.8462-1G>C | XP_011512387.1:n.8462-1G>C | |
| XM_011514086.3:c.8462-1G>C | XP_011512388.1:n.8462-1G>C | |
| XM_011514087.2:c.8408-1G>C | XP_011512389.1:n.8408-1G>C | |
| XM_011514088.2:c.8354-1G>C | XP_011512390.1:n.8354-1G>C | |
| XM_011514089.2:c.8462-1G>C | XP_011512391.1:n.8462-1G>C | |
| XM_011514090.3:c.8144-1G>C | XP_011512392.1:n.8144-1G>C | |
| XM_011514092.2:c.8462-1G>C | XP_011512394.1:n.8462-1G>C | |
| XM_011514094.2:c.5687-1G>C | XP_011512396.1:n.5687-1G>C | |
| XM_017009760.1:c.8273-1G>C | XP_016865249.1:n.8273-1G>C | |
| XM_017009761.2:c.8273-1G>C | XP_016865250.1:n.8273-1G>C | |
| XM_017009763.1:c.7469-1G>C | XP_016865252.1:n.7469-1G>C | |
| XM_017009765.1:c.7274-1G>C | XP_016865254.1:n.7274-1G>C | |
| XM_017009766.1:c.5105-1G>C | XP_016865255.1:n.5105-1G>C | |
| XM_024446183.1:c.8273-1G>C | XP_024301951.1:n.8273-1G>C | |
| XM_024446184.1:c.8144-1G>C | XP_024301952.1:n.8144-1G>C | |
| XM_024446185.1:c.7790-1G>C | XP_024301953.1:n.7790-1G>C | |
| XM_024446186.1:c.7469-1G>C | XP_024301954.1:n.7469-1G>C | |
| XR_001742208.1:n.8631-1G>C | ||
| XR_002956171.1:n.8577-1G>C | ||
| XR_925644.2:n.8686-1G>C | ||
| NM_001384732.1:c.8462-1G>C MANE Select | NP_001371661.1:n.8462-1G>C | |
| NM_023073.4:c.8300-1G>C | NP_075561.3:n.8300-1G>C |