Linked Data
dbSNP Id:
rs754429808
ExAC:
5:37153849 C / G
gnomAD v2:
5-37153849-C-G
gnomAD v4:
5-37153747-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37153747C>G , CM000667.2:g.37153747C>G | GRCh38 |
| NC_000005.9:g.37153849C>G , CM000667.1:g.37153849C>G | GRCh37 |
| NC_000005.8:g.37189606C>G | NCBI36 |
| NG_032772.1:g.100682G>C | |
| NG_032772.2:g.100682G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000510830.2:n.1365G>C | ||
| ENST00000651892.2:c.8366G>C MANE Select | ENSP00000498265.2:p.Cys2789Ser | |
| ENST00000425232.6:c.8204G>C | ENSP00000389014.2:p.Cys2735Ser | |
| ENST00000508244.5:c.8204G>C | ENSP00000421690.1:p.Cys2735Ser | |
| ENST00000508405.1:n.98G>C | ||
| ENST00000509849.5:c.5378G>C | ENSP00000426337.1:p.Cys1793Ser | |
| ENST00000509957.5:n.608G>C | ||
| ENST00000511824.2:c.1480G>C | ||
| ENST00000514429.5:c.5402G>C | ENSP00000424223.1:p.Cys1801Ser | |
| NM_023073.3:c.8204G>C | NP_075561.3:p.Cys2735Ser | |
| XM_005248345.2:c.8366G>C | XP_005248402.1:p.Cys2789Ser | |
| XM_005248346.2:c.8363G>C | XP_005248403.1:p.Cys2788Ser | |
| XM_005248347.2:c.8363G>C | XP_005248404.1:p.Cys2788Ser | |
| XM_005248349.2:c.8255G>C | XP_005248406.1:p.Cys2752Ser | |
| XM_005248350.2:c.8237G>C | XP_005248407.1:p.Cys2746Ser | |
| XM_005248353.3:c.5009G>C | XP_005248410.1:p.Cys1670Ser | |
| XM_006714489.2:c.8366G>C | XP_006714552.1:p.Cys2789Ser | |
| XM_006714491.2:c.2939G>C | XP_006714554.1:p.Cys980Ser | |
| XM_011514085.1:c.8366G>C | XP_011512387.1:p.Cys2789Ser | |
| XM_011514086.1:c.8366G>C | XP_011512388.1:p.Cys2789Ser | |
| XM_011514087.1:c.8312G>C | XP_011512389.1:p.Cys2771Ser | |
| XM_011514088.1:c.8258G>C | XP_011512390.1:p.Cys2753Ser | |
| XM_011514089.1:c.8366G>C | XP_011512391.1:p.Cys2789Ser | |
| XM_011514090.1:c.8048G>C | XP_011512392.1:p.Cys2683Ser | |
| XM_011514091.1:c.7694G>C | XP_011512393.1:p.Cys2565Ser | |
| XM_011514092.1:c.8366G>C | XP_011512394.1:p.Cys2789Ser | |
| XM_011514094.1:c.5591G>C | XP_011512396.1:p.Cys1864Ser | |
| XR_427661.2:n.8541G>C | ||
| XR_925644.1:n.8541G>C | ||
| XM_005248345.4:c.8366G>C | XP_005248402.1:p.Cys2789Ser | |
| XM_005248346.4:c.8363G>C | XP_005248403.1:p.Cys2788Ser | |
| XM_005248347.4:c.8363G>C | XP_005248404.1:p.Cys2788Ser | |
| XM_005248349.4:c.8255G>C | XP_005248406.1:p.Cys2752Ser | |
| XM_005248350.4:c.8237G>C | XP_005248407.1:p.Cys2746Ser | |
| XM_006714491.3:c.2939G>C | XP_006714554.1:p.Cys980Ser | |
| XM_011514085.3:c.8366G>C | XP_011512387.1:p.Cys2789Ser | |
| XM_011514086.3:c.8366G>C | XP_011512388.1:p.Cys2789Ser | |
| XM_011514087.2:c.8312G>C | XP_011512389.1:p.Cys2771Ser | |
| XM_011514088.2:c.8258G>C | XP_011512390.1:p.Cys2753Ser | |
| XM_011514089.2:c.8366G>C | XP_011512391.1:p.Cys2789Ser | |
| XM_011514090.3:c.8048G>C | XP_011512392.1:p.Cys2683Ser | |
| XM_011514092.2:c.8366G>C | XP_011512394.1:p.Cys2789Ser | |
| XM_011514094.2:c.5591G>C | XP_011512396.1:p.Cys1864Ser | |
| XM_017009760.1:c.8177G>C | XP_016865249.1:p.Cys2726Ser | |
| XM_017009761.2:c.8177G>C | XP_016865250.1:p.Cys2726Ser | |
| XM_017009763.1:c.7373G>C | XP_016865252.1:p.Cys2458Ser | |
| XM_017009765.1:c.7178G>C | XP_016865254.1:p.Cys2393Ser | |
| XM_017009766.1:c.5009G>C | XP_016865255.1:p.Cys1670Ser | |
| XM_024446183.1:c.8177G>C | XP_024301951.1:p.Cys2726Ser | |
| XM_024446184.1:c.8048G>C | XP_024301952.1:p.Cys2683Ser | |
| XM_024446185.1:c.7694G>C | XP_024301953.1:p.Cys2565Ser | |
| XM_024446186.1:c.7373G>C | XP_024301954.1:p.Cys2458Ser | |
| XR_001742208.1:n.8535G>C | ||
| XR_002956171.1:n.8481G>C | ||
| XR_925644.2:n.8590G>C | ||
| NM_001384732.1:c.8366G>C MANE Select | NP_001371661.1:p.Cys2789Ser | |
| NM_023073.4:c.8204G>C | NP_075561.3:p.Cys2735Ser |