Linked Data
ClinVar Variation Id:
96432
dbSNP Id:
rs398124495
ExAC:
6:51656067 A / G
gnomAD v2:
6-51656067-A-G
gnomAD v3:
6-51791269-A-G
gnomAD v4:
6-51791269-A-G
PubMed:
PMID:19914852
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51791269A>G , CM000668.2:g.51791269A>G | GRCh38 |
| NC_000006.11:g.51656067A>G , CM000668.1:g.51656067A>G | GRCh37 |
| NC_000006.10:g.51764026A>G | NCBI36 |
| NG_008753.1:g.301357T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371117.8:c.8407T>C MANE Select | ENSP00000360158.3:p.Cys2803Arg | |
| ENST00000340994.4:c.8407T>C | ENSP00000341097.4:p.Cys2803Arg | |
| ENST00000371117.7:c.8407T>C | ENSP00000360158.3:p.Cys2803Arg | |
| NM_138694.3:c.8407T>C | NP_619639.3:p.Cys2803Arg | |
| NM_170724.2:c.8407T>C | NP_733842.2:p.Cys2803Arg | |
| XM_011514679.1:c.8407T>C | XP_011512981.1:p.Cys2803Arg | |
| XM_011514680.1:c.8407T>C | XP_011512982.1:p.Cys2803Arg | |
| XM_011514681.1:c.8278T>C | XP_011512983.1:p.Cys2760Arg | |
| XM_011514682.1:c.8303-15348T>C | XP_011512984.1:n.8303-15348T>C | |
| XM_011514683.1:c.7765T>C | XP_011512985.1:p.Cys2589Arg | |
| XM_011514684.1:c.7696T>C | XP_011512986.1:p.Cys2566Arg | |
| XM_011514685.1:c.8407T>C | XP_011512987.1:p.Cys2803Arg | |
| XM_011514686.1:c.8407T>C | XP_011512988.1:p.Cys2803Arg | |
| XM_011514687.1:c.8407T>C | XP_011512989.1:p.Cys2803Arg | |
| XM_011514688.1:c.8407T>C | XP_011512990.1:p.Cys2803Arg | |
| XM_011514690.1:c.2482T>C | XP_011512992.1:p.Cys828Arg | |
| XM_011514691.1:c.2482T>C | XP_011512993.1:p.Cys828Arg | |
| XM_011514680.3:c.8407T>C | XP_011512982.1:p.Cys2803Arg | |
| XM_011514682.3:c.8303-15348T>C | XP_011512984.1:n.8303-15348T>C | |
| XM_011514683.3:c.7765T>C | XP_011512985.1:p.Cys2589Arg | |
| XM_011514684.3:c.7696T>C | XP_011512986.1:p.Cys2566Arg | |
| XM_011514686.2:c.8407T>C | XP_011512988.1:p.Cys2803Arg | |
| XM_011514688.2:c.8407T>C | XP_011512990.1:p.Cys2803Arg | |
| XM_011514690.3:c.2482T>C | XP_011512992.1:p.Cys828Arg | |
| XM_011514691.3:c.2482T>C | XP_011512993.1:p.Cys828Arg | |
| XM_017010944.2:c.8407T>C | XP_016866433.1:p.Cys2803Arg | |
| XM_017010945.2:c.8332T>C | XP_016866434.1:p.Cys2778Arg | |
| XM_017010946.2:c.8212T>C | XP_016866435.1:p.Cys2738Arg | |
| XM_017010947.2:c.8143T>C | XP_016866436.1:p.Cys2715Arg | |
| XM_017010948.2:c.7696T>C | XP_016866437.1:p.Cys2566Arg | |
| XM_017010949.2:c.6547T>C | XP_016866438.1:p.Cys2183Arg | |
| XM_017010950.1:c.8407T>C | XP_016866439.1:p.Cys2803Arg | |
| XM_017010951.1:c.8407T>C | XP_016866440.1:p.Cys2803Arg | |
| XR_001743469.1:n.8683T>C | ||
| NM_138694.4:c.8407T>C MANE Select | NP_619639.3:p.Cys2803Arg | |
| NM_170724.3:c.8407T>C | NP_733842.2:p.Cys2803Arg |