Linked Data
dbSNP Id:
rs766530305
ExAC:
6:51491903 C / G
gnomAD v2:
6-51491903-C-G
gnomAD v4:
6-51627105-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51627105C>G , CM000668.2:g.51627105C>G | GRCh38 |
| NC_000006.11:g.51491903C>G , CM000668.1:g.51491903C>G | GRCh37 |
| NC_000006.10:g.51599862C>G | NCBI36 |
| NG_008753.1:g.465521G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.11677G>C MANE Select | ENSP00000360158.3:p.Glu3893Gln | |
| ENST00000371117.7:c.11677G>C | ENSP00000360158.3:p.Glu3893Gln | |
| NM_138694.3:c.11677G>C | NP_619639.3:p.Glu3893Gln | |
| XM_011514679.1:c.11677G>C | XP_011512981.1:p.Glu3893Gln | |
| XM_011514680.1:c.11677G>C | XP_011512982.1:p.Glu3893Gln | |
| XM_011514681.1:c.11548G>C | XP_011512983.1:p.Glu3850Gln | |
| XM_011514682.1:c.11539G>C | XP_011512984.1:p.Glu3847Gln | |
| XM_011514683.1:c.11035G>C | XP_011512985.1:p.Glu3679Gln | |
| XM_011514684.1:c.10966G>C | XP_011512986.1:p.Glu3656Gln | |
| XM_011514690.1:c.5752G>C | XP_011512992.1:p.Glu1918Gln | |
| XM_011514691.1:c.5752G>C | XP_011512993.1:p.Glu1918Gln | |
| XM_011514680.3:c.11677G>C | XP_011512982.1:p.Glu3893Gln | |
| XM_011514682.3:c.11539G>C | XP_011512984.1:p.Glu3847Gln | |
| XM_011514683.3:c.11035G>C | XP_011512985.1:p.Glu3679Gln | |
| XM_011514684.3:c.10966G>C | XP_011512986.1:p.Glu3656Gln | |
| XM_011514690.3:c.5752G>C | XP_011512992.1:p.Glu1918Gln | |
| XM_011514691.3:c.5752G>C | XP_011512993.1:p.Glu1918Gln | |
| XM_017010944.2:c.11677G>C | XP_016866433.1:p.Glu3893Gln | |
| XM_017010945.2:c.11602G>C | XP_016866434.1:p.Glu3868Gln | |
| XM_017010946.2:c.11482G>C | XP_016866435.1:p.Glu3828Gln | |
| XM_017010947.2:c.11413G>C | XP_016866436.1:p.Glu3805Gln | |
| XM_017010948.2:c.10966G>C | XP_016866437.1:p.Glu3656Gln | |
| XM_017010949.2:c.9817G>C | XP_016866438.1:p.Glu3273Gln | |
| NM_138694.4:c.11677G>C MANE Select | NP_619639.3:p.Glu3893Gln |