Linked Data
ClinVar Variation Id:
488579
dbSNP Id:
rs201082169
ExAC:
6:51524750 G / A
gnomAD v2:
6-51524750-G-A
gnomAD v3:
6-51659952-G-A
gnomAD v4:
6-51659952-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659952G>A , CM000668.2:g.51659952G>A | GRCh38 |
| NC_000006.11:g.51524750G>A , CM000668.1:g.51524750G>A | GRCh37 |
| NC_000006.10:g.51632709G>A | NCBI36 |
| NG_008753.1:g.432674C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10174C>T MANE Select | ENSP00000360158.3:p.Gln3392Ter | |
| ENST00000371117.7:c.10174C>T | ENSP00000360158.3:p.Gln3392Ter | |
| NM_138694.3:c.10174C>T | NP_619639.3:p.Gln3392Ter | |
| XM_011514679.1:c.10174C>T | XP_011512981.1:p.Gln3392Ter | |
| XM_011514680.1:c.10174C>T | XP_011512982.1:p.Gln3392Ter | |
| XM_011514681.1:c.10045C>T | XP_011512983.1:p.Gln3349Ter | |
| XM_011514682.1:c.10036C>T | XP_011512984.1:p.Gln3346Ter | |
| XM_011514683.1:c.9532C>T | XP_011512985.1:p.Gln3178Ter | |
| XM_011514684.1:c.9463C>T | XP_011512986.1:p.Gln3155Ter | |
| XM_011514687.1:c.10157-10732C>T | XP_011512989.1:n.10157-10732C>T | |
| XM_011514690.1:c.4249C>T | XP_011512992.1:p.Gln1417Ter | |
| XM_011514691.1:c.4249C>T | XP_011512993.1:p.Gln1417Ter | |
| XR_926870.1:n.535+7579G>A | ||
| XR_926871.1:n.403+7579G>A | ||
| XR_926872.1:n.535+7579G>A | ||
| XM_011514680.3:c.10174C>T | XP_011512982.1:p.Gln3392Ter | |
| XM_011514682.3:c.10036C>T | XP_011512984.1:p.Gln3346Ter | |
| XM_011514683.3:c.9532C>T | XP_011512985.1:p.Gln3178Ter | |
| XM_011514684.3:c.9463C>T | XP_011512986.1:p.Gln3155Ter | |
| XM_011514690.3:c.4249C>T | XP_011512992.1:p.Gln1417Ter | |
| XM_011514691.3:c.4249C>T | XP_011512993.1:p.Gln1417Ter | |
| XM_017010944.2:c.10174C>T | XP_016866433.1:p.Gln3392Ter | |
| XM_017010945.2:c.10099C>T | XP_016866434.1:p.Gln3367Ter | |
| XM_017010946.2:c.9979C>T | XP_016866435.1:p.Gln3327Ter | |
| XM_017010947.2:c.9910C>T | XP_016866436.1:p.Gln3304Ter | |
| XM_017010948.2:c.9463C>T | XP_016866437.1:p.Gln3155Ter | |
| XM_017010949.2:c.8314C>T | XP_016866438.1:p.Gln2772Ter | |
| XR_001743469.1:n.10450C>T | ||
| XR_001744157.1:n.3145+7579G>A | ||
| XR_926870.2:n.3145+7579G>A | ||
| XR_926871.2:n.3013+7579G>A | ||
| XR_926872.2:n.3145+7579G>A | ||
| NM_138694.4:c.10174C>T MANE Select | NP_619639.3:p.Gln3392Ter |