Linked Data
ClinVar Variation Id:
2249509
ClinVar RCV Id:
RCV002767908
dbSNP Id:
rs139442289
gnomAD v2:
6-51523984-T-C
gnomAD v3:
6-51659186-T-C
gnomAD v4:
6-51659186-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659186T>C , CM000668.2:g.51659186T>C | GRCh38 |
| NC_000006.11:g.51523984T>C , CM000668.1:g.51523984T>C | GRCh37 |
| NC_000006.10:g.51631943T>C | NCBI36 |
| NG_008753.1:g.433440A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10940A>G MANE Select | ENSP00000360158.3:p.His3647Arg | |
| ENST00000371117.7:c.10940A>G | ENSP00000360158.3:p.His3647Arg | |
| NM_138694.3:c.10940A>G | NP_619639.3:p.His3647Arg | |
| XM_011514679.1:c.10940A>G | XP_011512981.1:p.His3647Arg | |
| XM_011514680.1:c.10940A>G | XP_011512982.1:p.His3647Arg | |
| XM_011514681.1:c.10811A>G | XP_011512983.1:p.His3604Arg | |
| XM_011514682.1:c.10802A>G | XP_011512984.1:p.His3601Arg | |
| XM_011514683.1:c.10298A>G | XP_011512985.1:p.His3433Arg | |
| XM_011514684.1:c.10229A>G | XP_011512986.1:p.His3410Arg | |
| XM_011514687.1:c.10157-9966A>G | XP_011512989.1:n.10157-9966A>G | |
| XM_011514690.1:c.5015A>G | XP_011512992.1:p.His1672Arg | |
| XM_011514691.1:c.5015A>G | XP_011512993.1:p.His1672Arg | |
| XR_926870.1:n.535+6813T>C | ||
| XR_926871.1:n.403+6813T>C | ||
| XR_926872.1:n.535+6813T>C | ||
| XM_011514680.3:c.10940A>G | XP_011512982.1:p.His3647Arg | |
| XM_011514682.3:c.10802A>G | XP_011512984.1:p.His3601Arg | |
| XM_011514683.3:c.10298A>G | XP_011512985.1:p.His3433Arg | |
| XM_011514684.3:c.10229A>G | XP_011512986.1:p.His3410Arg | |
| XM_011514690.3:c.5015A>G | XP_011512992.1:p.His1672Arg | |
| XM_011514691.3:c.5015A>G | XP_011512993.1:p.His1672Arg | |
| XM_017010944.2:c.10940A>G | XP_016866433.1:p.His3647Arg | |
| XM_017010945.2:c.10865A>G | XP_016866434.1:p.His3622Arg | |
| XM_017010946.2:c.10745A>G | XP_016866435.1:p.His3582Arg | |
| XM_017010947.2:c.10676A>G | XP_016866436.1:p.His3559Arg | |
| XM_017010948.2:c.10229A>G | XP_016866437.1:p.His3410Arg | |
| XM_017010949.2:c.9080A>G | XP_016866438.1:p.His3027Arg | |
| XR_001743469.1:n.11216A>G | ||
| XR_001744157.1:n.3145+6813T>C | ||
| XR_926870.2:n.3145+6813T>C | ||
| XR_926871.2:n.3013+6813T>C | ||
| XR_926872.2:n.3145+6813T>C | ||
| NM_138694.4:c.10940A>G MANE Select | NP_619639.3:p.His3647Arg |