Linked Data
ClinVar Variation Id:
96433
ClinVar RCV Id:
RCV000179136
dbSNP Id:
rs398124496
ExAC:
6:51656066 C / T
gnomAD v2:
6-51656066-C-T
gnomAD v4:
6-51791268-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51791268C>T , CM000668.2:g.51791268C>T | GRCh38 |
| NC_000006.11:g.51656066C>T , CM000668.1:g.51656066C>T | GRCh37 |
| NC_000006.10:g.51764025C>T | NCBI36 |
| NG_008753.1:g.301358G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371117.8:c.8408G>A MANE Select | ENSP00000360158.3:p.Cys2803Tyr | |
| ENST00000340994.4:c.8408G>A | ENSP00000341097.4:p.Cys2803Tyr | |
| ENST00000371117.7:c.8408G>A | ENSP00000360158.3:p.Cys2803Tyr | |
| NM_138694.3:c.8408G>A | NP_619639.3:p.Cys2803Tyr | |
| NM_170724.2:c.8408G>A | NP_733842.2:p.Cys2803Tyr | |
| XM_011514679.1:c.8408G>A | XP_011512981.1:p.Cys2803Tyr | |
| XM_011514680.1:c.8408G>A | XP_011512982.1:p.Cys2803Tyr | |
| XM_011514681.1:c.8279G>A | XP_011512983.1:p.Cys2760Tyr | |
| XM_011514682.1:c.8303-15347G>A | XP_011512984.1:n.8303-15347G>A | |
| XM_011514683.1:c.7766G>A | XP_011512985.1:p.Cys2589Tyr | |
| XM_011514684.1:c.7697G>A | XP_011512986.1:p.Cys2566Tyr | |
| XM_011514685.1:c.8408G>A | XP_011512987.1:p.Cys2803Tyr | |
| XM_011514686.1:c.8408G>A | XP_011512988.1:p.Cys2803Tyr | |
| XM_011514687.1:c.8408G>A | XP_011512989.1:p.Cys2803Tyr | |
| XM_011514688.1:c.8408G>A | XP_011512990.1:p.Cys2803Tyr | |
| XM_011514690.1:c.2483G>A | XP_011512992.1:p.Cys828Tyr | |
| XM_011514691.1:c.2483G>A | XP_011512993.1:p.Cys828Tyr | |
| XM_011514680.3:c.8408G>A | XP_011512982.1:p.Cys2803Tyr | |
| XM_011514682.3:c.8303-15347G>A | XP_011512984.1:n.8303-15347G>A | |
| XM_011514683.3:c.7766G>A | XP_011512985.1:p.Cys2589Tyr | |
| XM_011514684.3:c.7697G>A | XP_011512986.1:p.Cys2566Tyr | |
| XM_011514686.2:c.8408G>A | XP_011512988.1:p.Cys2803Tyr | |
| XM_011514688.2:c.8408G>A | XP_011512990.1:p.Cys2803Tyr | |
| XM_011514690.3:c.2483G>A | XP_011512992.1:p.Cys828Tyr | |
| XM_011514691.3:c.2483G>A | XP_011512993.1:p.Cys828Tyr | |
| XM_017010944.2:c.8408G>A | XP_016866433.1:p.Cys2803Tyr | |
| XM_017010945.2:c.8333G>A | XP_016866434.1:p.Cys2778Tyr | |
| XM_017010946.2:c.8213G>A | XP_016866435.1:p.Cys2738Tyr | |
| XM_017010947.2:c.8144G>A | XP_016866436.1:p.Cys2715Tyr | |
| XM_017010948.2:c.7697G>A | XP_016866437.1:p.Cys2566Tyr | |
| XM_017010949.2:c.6548G>A | XP_016866438.1:p.Cys2183Tyr | |
| XM_017010950.1:c.8408G>A | XP_016866439.1:p.Cys2803Tyr | |
| XM_017010951.1:c.8408G>A | XP_016866440.1:p.Cys2803Tyr | |
| XR_001743469.1:n.8684G>A | ||
| NM_138694.4:c.8408G>A MANE Select | NP_619639.3:p.Cys2803Tyr | |
| NM_170724.3:c.8408G>A | NP_733842.2:p.Cys2803Tyr |