Linked Data
ClinVar Variation Id:
1105364
ClinVar RCV Id:
RCV001429738
dbSNP Id:
rs1431172923
gnomAD v2:
6-51524733-T-C
gnomAD v3:
6-51659935-T-C
gnomAD v4:
6-51659935-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659935T>C , CM000668.2:g.51659935T>C | GRCh38 |
| NC_000006.11:g.51524733T>C , CM000668.1:g.51524733T>C | GRCh37 |
| NC_000006.10:g.51632692T>C | NCBI36 |
| NG_008753.1:g.432691A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10191A>G MANE Select | ENSP00000360158.3:p.Gln3397= | |
| ENST00000371117.7:c.10191A>G | ENSP00000360158.3:p.Gln3397= | |
| NM_138694.3:c.10191A>G | NP_619639.3:p.Gln3397= | |
| XM_011514679.1:c.10191A>G | XP_011512981.1:p.Gln3397= | |
| XM_011514680.1:c.10191A>G | XP_011512982.1:p.Gln3397= | |
| XM_011514681.1:c.10062A>G | XP_011512983.1:p.Gln3354= | |
| XM_011514682.1:c.10053A>G | XP_011512984.1:p.Gln3351= | |
| XM_011514683.1:c.9549A>G | XP_011512985.1:p.Gln3183= | |
| XM_011514684.1:c.9480A>G | XP_011512986.1:p.Gln3160= | |
| XM_011514687.1:c.10157-10715A>G | XP_011512989.1:n.10157-10715A>G | |
| XM_011514690.1:c.4266A>G | XP_011512992.1:p.Gln1422= | |
| XM_011514691.1:c.4266A>G | XP_011512993.1:p.Gln1422= | |
| XR_926870.1:n.535+7562T>C | ||
| XR_926871.1:n.403+7562T>C | ||
| XR_926872.1:n.535+7562T>C | ||
| XM_011514680.3:c.10191A>G | XP_011512982.1:p.Gln3397= | |
| XM_011514682.3:c.10053A>G | XP_011512984.1:p.Gln3351= | |
| XM_011514683.3:c.9549A>G | XP_011512985.1:p.Gln3183= | |
| XM_011514684.3:c.9480A>G | XP_011512986.1:p.Gln3160= | |
| XM_011514690.3:c.4266A>G | XP_011512992.1:p.Gln1422= | |
| XM_011514691.3:c.4266A>G | XP_011512993.1:p.Gln1422= | |
| XM_017010944.2:c.10191A>G | XP_016866433.1:p.Gln3397= | |
| XM_017010945.2:c.10116A>G | XP_016866434.1:p.Gln3372= | |
| XM_017010946.2:c.9996A>G | XP_016866435.1:p.Gln3332= | |
| XM_017010947.2:c.9927A>G | XP_016866436.1:p.Gln3309= | |
| XM_017010948.2:c.9480A>G | XP_016866437.1:p.Gln3160= | |
| XM_017010949.2:c.8331A>G | XP_016866438.1:p.Gln2777= | |
| XR_001743469.1:n.10467A>G | ||
| XR_001744157.1:n.3145+7562T>C | ||
| XR_926870.2:n.3145+7562T>C | ||
| XR_926871.2:n.3013+7562T>C | ||
| XR_926872.2:n.3145+7562T>C | ||
| NM_138694.4:c.10191A>G MANE Select | NP_619639.3:p.Gln3397= |