Linked Data
ClinVar Variation Id:
447769
ClinVar RCV Id:
RCV000517948
dbSNP Id:
rs757245118
ExAC:
5:36995728 T / C
gnomAD v2:
5-36995728-T-C
gnomAD v3:
5-36995626-T-C
gnomAD v4:
5-36995626-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.36995626T>C , CM000667.2:g.36995626T>C | GRCh38 |
| NC_000005.9:g.36995728T>C , CM000667.1:g.36995728T>C | GRCh37 |
| NC_000005.8:g.37031485T>C | NCBI36 |
| NG_006987.1:g.123744T>C | |
| NG_006987.2:g.123744T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282516.13:c.3126T>C MANE Select | ENSP00000282516.8:p.Ser1042= | |
| ENST00000652901.1:c.3126T>C | ENSP00000499536.1:p.Ser1042= | |
| ENST00000282516.12:c.3126T>C | ENSP00000282516.8:p.Ser1042= | |
| ENST00000448238.2:c.3126T>C | ENSP00000406266.2:p.Ser1042= | |
| ENST00000503274.1:n.477T>C | ||
| ENST00000504430.5:n.2746T>C | ||
| ENST00000621733.1:c.1-68952T>C | ENSP00000480694.1:n.1-68952T>C | |
| NM_015384.4:c.3126T>C | NP_056199.2:p.Ser1042= | |
| NM_133433.3:c.3126T>C | NP_597677.2:p.Ser1042= | |
| XM_005248280.2:c.3126T>C | XP_005248337.1:p.Ser1042= | |
| XM_005248282.3:c.2382T>C | XP_005248339.2:p.Ser794= | |
| XM_006714467.2:c.3126T>C | XP_006714530.1:p.Ser1042= | |
| XM_006714468.1:c.3126T>C | XP_006714531.1:p.Ser1042= | |
| XM_011514014.1:c.3122-5191T>C | XP_011512316.1:n.3122-5191T>C | |
| XM_011514015.1:c.3126T>C | XP_011512317.1:p.Ser1042= | |
| XM_005248280.3:c.3126T>C | XP_005248337.1:p.Ser1042= | |
| XM_005248282.5:c.2466T>C | XP_005248339.3:p.Ser822= | |
| XM_006714468.2:c.3126T>C | XP_006714531.1:p.Ser1042= | |
| XM_017009329.1:c.3126T>C | XP_016864818.1:p.Ser1042= | |
| XM_017009330.2:c.1509T>C | XP_016864819.1:p.Ser503= | |
| XM_017009331.1:c.1500T>C | XP_016864820.1:p.Ser500= | |
| NM_133433.4:c.3126T>C MANE Select | NP_597677.2:p.Ser1042= | |
| NM_015384.5:c.3126T>C | NP_056199.2:p.Ser1042= |