Linked Data
ClinVar Variation Id:
2199904
dbSNP Id:
rs533623441
gnomAD v3:
6-51659256-T-C
gnomAD v4:
6-51659256-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659256T>C , CM000668.2:g.51659256T>C | GRCh38 |
| NC_000006.11:g.51524054T>C , CM000668.1:g.51524054T>C | GRCh37 |
| NC_000006.10:g.51632013T>C | NCBI36 |
| NG_008753.1:g.433370A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10870A>G MANE Select | ENSP00000360158.3:p.Thr3624Ala | |
| ENST00000371117.7:c.10870A>G | ENSP00000360158.3:p.Thr3624Ala | |
| NM_138694.3:c.10870A>G | NP_619639.3:p.Thr3624Ala | |
| XM_011514679.1:c.10870A>G | XP_011512981.1:p.Thr3624Ala | |
| XM_011514680.1:c.10870A>G | XP_011512982.1:p.Thr3624Ala | |
| XM_011514681.1:c.10741A>G | XP_011512983.1:p.Thr3581Ala | |
| XM_011514682.1:c.10732A>G | XP_011512984.1:p.Thr3578Ala | |
| XM_011514683.1:c.10228A>G | XP_011512985.1:p.Thr3410Ala | |
| XM_011514684.1:c.10159A>G | XP_011512986.1:p.Thr3387Ala | |
| XM_011514687.1:c.10157-10036A>G | XP_011512989.1:n.10157-10036A>G | |
| XM_011514690.1:c.4945A>G | XP_011512992.1:p.Thr1649Ala | |
| XM_011514691.1:c.4945A>G | XP_011512993.1:p.Thr1649Ala | |
| XR_926870.1:n.535+6883T>C | ||
| XR_926871.1:n.403+6883T>C | ||
| XR_926872.1:n.535+6883T>C | ||
| XM_011514680.3:c.10870A>G | XP_011512982.1:p.Thr3624Ala | |
| XM_011514682.3:c.10732A>G | XP_011512984.1:p.Thr3578Ala | |
| XM_011514683.3:c.10228A>G | XP_011512985.1:p.Thr3410Ala | |
| XM_011514684.3:c.10159A>G | XP_011512986.1:p.Thr3387Ala | |
| XM_011514690.3:c.4945A>G | XP_011512992.1:p.Thr1649Ala | |
| XM_011514691.3:c.4945A>G | XP_011512993.1:p.Thr1649Ala | |
| XM_017010944.2:c.10870A>G | XP_016866433.1:p.Thr3624Ala | |
| XM_017010945.2:c.10795A>G | XP_016866434.1:p.Thr3599Ala | |
| XM_017010946.2:c.10675A>G | XP_016866435.1:p.Thr3559Ala | |
| XM_017010947.2:c.10606A>G | XP_016866436.1:p.Thr3536Ala | |
| XM_017010948.2:c.10159A>G | XP_016866437.1:p.Thr3387Ala | |
| XM_017010949.2:c.9010A>G | XP_016866438.1:p.Thr3004Ala | |
| XR_001743469.1:n.11146A>G | ||
| XR_001744157.1:n.3145+6883T>C | ||
| XR_926870.2:n.3145+6883T>C | ||
| XR_926871.2:n.3013+6883T>C | ||
| XR_926872.2:n.3145+6883T>C | ||
| NM_138694.4:c.10870A>G MANE Select | NP_619639.3:p.Thr3624Ala |