Linked Data
ClinVar Variation Id:
96431
dbSNP Id:
rs147222255
ExAC:
6:51656129 C / G
gnomAD v2:
6-51656129-C-G
gnomAD v3:
6-51791331-C-G
gnomAD v4:
6-51791331-C-G
PubMed:
PMID:15698423
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51791331C>G , CM000668.2:g.51791331C>G | GRCh38 |
| NC_000006.11:g.51656129C>G , CM000668.1:g.51656129C>G | GRCh37 |
| NC_000006.10:g.51764088C>G | NCBI36 |
| NG_008753.1:g.301295G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.8345G>C MANE Select | ENSP00000360158.3:p.Gly2782Ala | |
| ENST00000340994.4:c.8345G>C | ENSP00000341097.4:p.Gly2782Ala | |
| ENST00000371117.7:c.8345G>C | ENSP00000360158.3:p.Gly2782Ala | |
| NM_138694.3:c.8345G>C | NP_619639.3:p.Gly2782Ala | |
| NM_170724.2:c.8345G>C | NP_733842.2:p.Gly2782Ala | |
| XM_011514679.1:c.8345G>C | XP_011512981.1:p.Gly2782Ala | |
| XM_011514680.1:c.8345G>C | XP_011512982.1:p.Gly2782Ala | |
| XM_011514681.1:c.8216G>C | XP_011512983.1:p.Gly2739Ala | |
| XM_011514682.1:c.8303-15410G>C | XP_011512984.1:n.8303-15410G>C | |
| XM_011514683.1:c.7703G>C | XP_011512985.1:p.Gly2568Ala | |
| XM_011514684.1:c.7634G>C | XP_011512986.1:p.Gly2545Ala | |
| XM_011514685.1:c.8345G>C | XP_011512987.1:p.Gly2782Ala | |
| XM_011514686.1:c.8345G>C | XP_011512988.1:p.Gly2782Ala | |
| XM_011514687.1:c.8345G>C | XP_011512989.1:p.Gly2782Ala | |
| XM_011514688.1:c.8345G>C | XP_011512990.1:p.Gly2782Ala | |
| XM_011514689.1:c.*51G>C | XP_011512991.1:n.*51G>C | |
| XM_011514690.1:c.2420G>C | XP_011512992.1:p.Gly807Ala | |
| XM_011514691.1:c.2420G>C | XP_011512993.1:p.Gly807Ala | |
| XM_011514680.3:c.8345G>C | XP_011512982.1:p.Gly2782Ala | |
| XM_011514682.3:c.8303-15410G>C | XP_011512984.1:n.8303-15410G>C | |
| XM_011514683.3:c.7703G>C | XP_011512985.1:p.Gly2568Ala | |
| XM_011514684.3:c.7634G>C | XP_011512986.1:p.Gly2545Ala | |
| XM_011514686.2:c.8345G>C | XP_011512988.1:p.Gly2782Ala | |
| XM_011514688.2:c.8345G>C | XP_011512990.1:p.Gly2782Ala | |
| XM_011514690.3:c.2420G>C | XP_011512992.1:p.Gly807Ala | |
| XM_011514691.3:c.2420G>C | XP_011512993.1:p.Gly807Ala | |
| XM_017010944.2:c.8345G>C | XP_016866433.1:p.Gly2782Ala | |
| XM_017010945.2:c.8270G>C | XP_016866434.1:p.Gly2757Ala | |
| XM_017010946.2:c.8150G>C | XP_016866435.1:p.Gly2717Ala | |
| XM_017010947.2:c.8081G>C | XP_016866436.1:p.Gly2694Ala | |
| XM_017010948.2:c.7634G>C | XP_016866437.1:p.Gly2545Ala | |
| XM_017010949.2:c.6485G>C | XP_016866438.1:p.Gly2162Ala | |
| XM_017010950.1:c.8345G>C | XP_016866439.1:p.Gly2782Ala | |
| XM_017010951.1:c.8345G>C | XP_016866440.1:p.Gly2782Ala | |
| XR_001743469.1:n.8621G>C | ||
| NM_138694.4:c.8345G>C MANE Select | NP_619639.3:p.Gly2782Ala | |
| NM_170724.3:c.8345G>C | NP_733842.2:p.Gly2782Ala |