Linked Data
dbSNP Id:
rs759233887
ExAC:
6:51524021 C / T
gnomAD v2:
6-51524021-C-T
gnomAD v4:
6-51659223-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51659223C>T , CM000668.2:g.51659223C>T | GRCh38 |
| NC_000006.11:g.51524021C>T , CM000668.1:g.51524021C>T | GRCh37 |
| NC_000006.10:g.51631980C>T | NCBI36 |
| NG_008753.1:g.433403G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.10903G>A MANE Select | ENSP00000360158.3:p.Gly3635Ser | |
| ENST00000371117.7:c.10903G>A | ENSP00000360158.3:p.Gly3635Ser | |
| NM_138694.3:c.10903G>A | NP_619639.3:p.Gly3635Ser | |
| XM_011514679.1:c.10903G>A | XP_011512981.1:p.Gly3635Ser | |
| XM_011514680.1:c.10903G>A | XP_011512982.1:p.Gly3635Ser | |
| XM_011514681.1:c.10774G>A | XP_011512983.1:p.Gly3592Ser | |
| XM_011514682.1:c.10765G>A | XP_011512984.1:p.Gly3589Ser | |
| XM_011514683.1:c.10261G>A | XP_011512985.1:p.Gly3421Ser | |
| XM_011514684.1:c.10192G>A | XP_011512986.1:p.Gly3398Ser | |
| XM_011514687.1:c.10157-10003G>A | XP_011512989.1:n.10157-10003G>A | |
| XM_011514690.1:c.4978G>A | XP_011512992.1:p.Gly1660Ser | |
| XM_011514691.1:c.4978G>A | XP_011512993.1:p.Gly1660Ser | |
| XR_926870.1:n.535+6850C>T | ||
| XR_926871.1:n.403+6850C>T | ||
| XR_926872.1:n.535+6850C>T | ||
| XM_011514680.3:c.10903G>A | XP_011512982.1:p.Gly3635Ser | |
| XM_011514682.3:c.10765G>A | XP_011512984.1:p.Gly3589Ser | |
| XM_011514683.3:c.10261G>A | XP_011512985.1:p.Gly3421Ser | |
| XM_011514684.3:c.10192G>A | XP_011512986.1:p.Gly3398Ser | |
| XM_011514690.3:c.4978G>A | XP_011512992.1:p.Gly1660Ser | |
| XM_011514691.3:c.4978G>A | XP_011512993.1:p.Gly1660Ser | |
| XM_017010944.2:c.10903G>A | XP_016866433.1:p.Gly3635Ser | |
| XM_017010945.2:c.10828G>A | XP_016866434.1:p.Gly3610Ser | |
| XM_017010946.2:c.10708G>A | XP_016866435.1:p.Gly3570Ser | |
| XM_017010947.2:c.10639G>A | XP_016866436.1:p.Gly3547Ser | |
| XM_017010948.2:c.10192G>A | XP_016866437.1:p.Gly3398Ser | |
| XM_017010949.2:c.9043G>A | XP_016866438.1:p.Gly3015Ser | |
| XR_001743469.1:n.11179G>A | ||
| XR_001744157.1:n.3145+6850C>T | ||
| XR_926870.2:n.3145+6850C>T | ||
| XR_926871.2:n.3013+6850C>T | ||
| XR_926872.2:n.3145+6850C>T | ||
| NM_138694.4:c.10903G>A MANE Select | NP_619639.3:p.Gly3635Ser |