Linked Data
dbSNP Id:
rs768476174
ExAC:
6:51491882 T / A
gnomAD v2:
6-51491882-T-A
gnomAD v4:
6-51627084-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51627084T>A , CM000668.2:g.51627084T>A | GRCh38 |
| NC_000006.11:g.51491882T>A , CM000668.1:g.51491882T>A | GRCh37 |
| NC_000006.10:g.51599841T>A | NCBI36 |
| NG_008753.1:g.465542A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.11698A>T MANE Select | ENSP00000360158.3:p.Thr3900Ser | |
| ENST00000371117.7:c.11698A>T | ENSP00000360158.3:p.Thr3900Ser | |
| NM_138694.3:c.11698A>T | NP_619639.3:p.Thr3900Ser | |
| XM_011514679.1:c.11698A>T | XP_011512981.1:p.Thr3900Ser | |
| XM_011514680.1:c.11698A>T | XP_011512982.1:p.Thr3900Ser | |
| XM_011514681.1:c.11569A>T | XP_011512983.1:p.Thr3857Ser | |
| XM_011514682.1:c.11560A>T | XP_011512984.1:p.Thr3854Ser | |
| XM_011514683.1:c.11056A>T | XP_011512985.1:p.Thr3686Ser | |
| XM_011514684.1:c.10987A>T | XP_011512986.1:p.Thr3663Ser | |
| XM_011514690.1:c.5773A>T | XP_011512992.1:p.Thr1925Ser | |
| XM_011514691.1:c.5773A>T | XP_011512993.1:p.Thr1925Ser | |
| XM_011514680.3:c.11698A>T | XP_011512982.1:p.Thr3900Ser | |
| XM_011514682.3:c.11560A>T | XP_011512984.1:p.Thr3854Ser | |
| XM_011514683.3:c.11056A>T | XP_011512985.1:p.Thr3686Ser | |
| XM_011514684.3:c.10987A>T | XP_011512986.1:p.Thr3663Ser | |
| XM_011514690.3:c.5773A>T | XP_011512992.1:p.Thr1925Ser | |
| XM_011514691.3:c.5773A>T | XP_011512993.1:p.Thr1925Ser | |
| XM_017010944.2:c.11698A>T | XP_016866433.1:p.Thr3900Ser | |
| XM_017010945.2:c.11623A>T | XP_016866434.1:p.Thr3875Ser | |
| XM_017010946.2:c.11503A>T | XP_016866435.1:p.Thr3835Ser | |
| XM_017010947.2:c.11434A>T | XP_016866436.1:p.Thr3812Ser | |
| XM_017010948.2:c.10987A>T | XP_016866437.1:p.Thr3663Ser | |
| XM_017010949.2:c.9838A>T | XP_016866438.1:p.Thr3280Ser | |
| NM_138694.4:c.11698A>T MANE Select | NP_619639.3:p.Thr3900Ser |