Linked Data
dbSNP Id:
rs746645550
ExAC:
6:51491881 G / T
gnomAD v2:
6-51491881-G-T
gnomAD v4:
6-51627083-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51627083G>T , CM000668.2:g.51627083G>T | GRCh38 |
| NC_000006.11:g.51491881G>T , CM000668.1:g.51491881G>T | GRCh37 |
| NC_000006.10:g.51599840G>T | NCBI36 |
| NG_008753.1:g.465543C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.11699C>A MANE Select | ENSP00000360158.3:p.Thr3900Asn | |
| ENST00000371117.7:c.11699C>A | ENSP00000360158.3:p.Thr3900Asn | |
| NM_138694.3:c.11699C>A | NP_619639.3:p.Thr3900Asn | |
| XM_011514679.1:c.11699C>A | XP_011512981.1:p.Thr3900Asn | |
| XM_011514680.1:c.11699C>A | XP_011512982.1:p.Thr3900Asn | |
| XM_011514681.1:c.11570C>A | XP_011512983.1:p.Thr3857Asn | |
| XM_011514682.1:c.11561C>A | XP_011512984.1:p.Thr3854Asn | |
| XM_011514683.1:c.11057C>A | XP_011512985.1:p.Thr3686Asn | |
| XM_011514684.1:c.10988C>A | XP_011512986.1:p.Thr3663Asn | |
| XM_011514690.1:c.5774C>A | XP_011512992.1:p.Thr1925Asn | |
| XM_011514691.1:c.5774C>A | XP_011512993.1:p.Thr1925Asn | |
| XM_011514680.3:c.11699C>A | XP_011512982.1:p.Thr3900Asn | |
| XM_011514682.3:c.11561C>A | XP_011512984.1:p.Thr3854Asn | |
| XM_011514683.3:c.11057C>A | XP_011512985.1:p.Thr3686Asn | |
| XM_011514684.3:c.10988C>A | XP_011512986.1:p.Thr3663Asn | |
| XM_011514690.3:c.5774C>A | XP_011512992.1:p.Thr1925Asn | |
| XM_011514691.3:c.5774C>A | XP_011512993.1:p.Thr1925Asn | |
| XM_017010944.2:c.11699C>A | XP_016866433.1:p.Thr3900Asn | |
| XM_017010945.2:c.11624C>A | XP_016866434.1:p.Thr3875Asn | |
| XM_017010946.2:c.11504C>A | XP_016866435.1:p.Thr3835Asn | |
| XM_017010947.2:c.11435C>A | XP_016866436.1:p.Thr3812Asn | |
| XM_017010948.2:c.10988C>A | XP_016866437.1:p.Thr3663Asn | |
| XM_017010949.2:c.9839C>A | XP_016866438.1:p.Thr3280Asn | |
| NM_138694.4:c.11699C>A MANE Select | NP_619639.3:p.Thr3900Asn |