Linked Data
ClinVar Variation Id:
261670
dbSNP Id:
rs141425550
ExAC:
5:37201753 T / C
gnomAD v2:
5-37201753-T-C
gnomAD v3:
5-37201651-T-C
gnomAD v4:
5-37201651-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.37201651T>C , CM000667.2:g.37201651T>C | GRCh38 |
| NC_000005.9:g.37201753T>C , CM000667.1:g.37201753T>C | GRCh37 |
| NC_000005.8:g.37237510T>C | NCBI36 |
| NG_032772.1:g.52778A>G | |
| NG_032772.2:g.52778A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000425232.7:c.2951A>G | ||
| ENST00000651892.2:c.3447A>G MANE Select | ENSP00000498265.2:p.Pro1149= | |
| ENST00000676290.1:n.3522A>G | ||
| ENST00000425232.6:c.3447A>G | ENSP00000389014.2:p.Pro1149= | |
| ENST00000508244.5:c.3447A>G | ENSP00000421690.1:p.Pro1149= | |
| ENST00000509849.5:c.462A>G | ENSP00000426337.1:p.Pro154= | |
| ENST00000514429.5:c.591A>G | ENSP00000424223.1:p.Pro197= | |
| NM_023073.3:c.3447A>G | NP_075561.3:p.Pro1149= | |
| XM_005248345.2:c.3447A>G | XP_005248402.1:p.Pro1149= | |
| XM_005248346.2:c.3447A>G | XP_005248403.1:p.Pro1149= | |
| XM_005248347.2:c.3447A>G | XP_005248404.1:p.Pro1149= | |
| XM_005248349.2:c.3447A>G | XP_005248406.1:p.Pro1149= | |
| XM_005248350.2:c.3318A>G | XP_005248407.1:p.Pro1106= | |
| XM_005248353.3:c.90A>G | XP_005248410.1:p.Pro30= | |
| XM_006714489.2:c.3447A>G | XP_006714552.1:p.Pro1149= | |
| XM_011514085.1:c.3447A>G | XP_011512387.1:p.Pro1149= | |
| XM_011514086.1:c.3447A>G | XP_011512388.1:p.Pro1149= | |
| XM_011514087.1:c.3447A>G | XP_011512389.1:p.Pro1149= | |
| XM_011514088.1:c.3447A>G | XP_011512390.1:p.Pro1149= | |
| XM_011514089.1:c.3447A>G | XP_011512391.1:p.Pro1149= | |
| XM_011514090.1:c.3129A>G | XP_011512392.1:p.Pro1043= | |
| XM_011514091.1:c.2775A>G | XP_011512393.1:p.Pro925= | |
| XM_011514092.1:c.3447A>G | XP_011512394.1:p.Pro1149= | |
| XM_011514093.1:c.3447A>G | XP_011512395.1:p.Pro1149= | |
| XM_011514094.1:c.672A>G | XP_011512396.1:p.Pro224= | |
| XR_427661.2:n.3622A>G | ||
| XR_925644.1:n.3622A>G | ||
| XM_005248345.4:c.3447A>G | XP_005248402.1:p.Pro1149= | |
| XM_005248346.4:c.3447A>G | XP_005248403.1:p.Pro1149= | |
| XM_005248347.4:c.3447A>G | XP_005248404.1:p.Pro1149= | |
| XM_005248349.4:c.3447A>G | XP_005248406.1:p.Pro1149= | |
| XM_005248350.4:c.3318A>G | XP_005248407.1:p.Pro1106= | |
| XM_011514085.3:c.3447A>G | XP_011512387.1:p.Pro1149= | |
| XM_011514086.3:c.3447A>G | XP_011512388.1:p.Pro1149= | |
| XM_011514087.2:c.3447A>G | XP_011512389.1:p.Pro1149= | |
| XM_011514088.2:c.3447A>G | XP_011512390.1:p.Pro1149= | |
| XM_011514089.2:c.3447A>G | XP_011512391.1:p.Pro1149= | |
| XM_011514090.3:c.3129A>G | XP_011512392.1:p.Pro1043= | |
| XM_011514092.2:c.3447A>G | XP_011512394.1:p.Pro1149= | |
| XM_011514094.2:c.672A>G | XP_011512396.1:p.Pro224= | |
| XM_017009760.1:c.3258A>G | XP_016865249.1:p.Pro1086= | |
| XM_017009761.2:c.3258A>G | XP_016865250.1:p.Pro1086= | |
| XM_017009763.1:c.2454A>G | XP_016865252.1:p.Pro818= | |
| XM_017009765.1:c.2259A>G | XP_016865254.1:p.Pro753= | |
| XM_017009766.1:c.90A>G | XP_016865255.1:p.Pro30= | |
| XM_024446183.1:c.3258A>G | XP_024301951.1:p.Pro1086= | |
| XM_024446184.1:c.3129A>G | XP_024301952.1:p.Pro1043= | |
| XM_024446185.1:c.2775A>G | XP_024301953.1:p.Pro925= | |
| XM_024446186.1:c.2454A>G | XP_024301954.1:p.Pro818= | |
| XR_001742208.1:n.3671A>G | ||
| XR_002956171.1:n.3671A>G | ||
| XR_925644.2:n.3671A>G | ||
| NM_001384732.1:c.3447A>G MANE Select | NP_001371661.1:p.Pro1149= | |
| NM_023073.4:c.3447A>G | NP_075561.3:p.Pro1149= |