Linked Data
ClinVar Variation Id:
167474
dbSNP Id:
rs139014478
ExAC:
6:51524409 G / T
gnomAD v2:
6-51524409-G-T
gnomAD v3:
6-51659611-G-T
gnomAD v4:
6-51659611-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659611G>T , CM000668.2:g.51659611G>T | GRCh38 |
| NC_000006.11:g.51524409G>T , CM000668.1:g.51524409G>T | GRCh37 |
| NC_000006.10:g.51632368G>T | NCBI36 |
| NG_008753.1:g.433015C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10515C>A MANE Select | ENSP00000360158.3:p.Ser3505Arg | |
| ENST00000371117.7:c.10515C>A | ENSP00000360158.3:p.Ser3505Arg | |
| NM_138694.3:c.10515C>A | NP_619639.3:p.Ser3505Arg | |
| XM_011514679.1:c.10515C>A | XP_011512981.1:p.Ser3505Arg | |
| XM_011514680.1:c.10515C>A | XP_011512982.1:p.Ser3505Arg | |
| XM_011514681.1:c.10386C>A | XP_011512983.1:p.Ser3462Arg | |
| XM_011514682.1:c.10377C>A | XP_011512984.1:p.Ser3459Arg | |
| XM_011514683.1:c.9873C>A | XP_011512985.1:p.Ser3291Arg | |
| XM_011514684.1:c.9804C>A | XP_011512986.1:p.Ser3268Arg | |
| XM_011514687.1:c.10157-10391C>A | XP_011512989.1:n.10157-10391C>A | |
| XM_011514690.1:c.4590C>A | XP_011512992.1:p.Ser1530Arg | |
| XM_011514691.1:c.4590C>A | XP_011512993.1:p.Ser1530Arg | |
| XR_926870.1:n.535+7238G>T | ||
| XR_926871.1:n.403+7238G>T | ||
| XR_926872.1:n.535+7238G>T | ||
| XM_011514680.3:c.10515C>A | XP_011512982.1:p.Ser3505Arg | |
| XM_011514682.3:c.10377C>A | XP_011512984.1:p.Ser3459Arg | |
| XM_011514683.3:c.9873C>A | XP_011512985.1:p.Ser3291Arg | |
| XM_011514684.3:c.9804C>A | XP_011512986.1:p.Ser3268Arg | |
| XM_011514690.3:c.4590C>A | XP_011512992.1:p.Ser1530Arg | |
| XM_011514691.3:c.4590C>A | XP_011512993.1:p.Ser1530Arg | |
| XM_017010944.2:c.10515C>A | XP_016866433.1:p.Ser3505Arg | |
| XM_017010945.2:c.10440C>A | XP_016866434.1:p.Ser3480Arg | |
| XM_017010946.2:c.10320C>A | XP_016866435.1:p.Ser3440Arg | |
| XM_017010947.2:c.10251C>A | XP_016866436.1:p.Ser3417Arg | |
| XM_017010948.2:c.9804C>A | XP_016866437.1:p.Ser3268Arg | |
| XM_017010949.2:c.8655C>A | XP_016866438.1:p.Ser2885Arg | |
| XR_001743469.1:n.10791C>A | ||
| XR_001744157.1:n.3145+7238G>T | ||
| XR_926870.2:n.3145+7238G>T | ||
| XR_926871.2:n.3013+7238G>T | ||
| XR_926872.2:n.3145+7238G>T | ||
| NM_138694.4:c.10515C>A MANE Select | NP_619639.3:p.Ser3505Arg |