Linked Data
ClinVar Variation Id:
370289
dbSNP Id:
rs199839578
gnomAD v2:
6-51512913-G-A
gnomAD v3:
6-51648115-G-A
gnomAD v4:
6-51648115-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51648115G>A , CM000668.2:g.51648115G>A | GRCh38 |
| NC_000006.11:g.51512913G>A , CM000668.1:g.51512913G>A | GRCh37 |
| NC_000006.10:g.51620872G>A | NCBI36 |
| NG_008753.1:g.444511C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371117.8:c.11314C>T MANE Select | ENSP00000360158.3:p.Arg3772Ter | |
| ENST00000371117.7:c.11314C>T | ENSP00000360158.3:p.Arg3772Ter | |
| NM_138694.3:c.11314C>T | NP_619639.3:p.Arg3772Ter | |
| XM_011514679.1:c.11314C>T | XP_011512981.1:p.Arg3772Ter | |
| XM_011514680.1:c.11314C>T | XP_011512982.1:p.Arg3772Ter | |
| XM_011514681.1:c.11185C>T | XP_011512983.1:p.Arg3729Ter | |
| XM_011514682.1:c.11176C>T | XP_011512984.1:p.Arg3726Ter | |
| XM_011514683.1:c.10672C>T | XP_011512985.1:p.Arg3558Ter | |
| XM_011514684.1:c.10603C>T | XP_011512986.1:p.Arg3535Ter | |
| XM_011514690.1:c.5389C>T | XP_011512992.1:p.Arg1797Ter | |
| XM_011514691.1:c.5389C>T | XP_011512993.1:p.Arg1797Ter | |
| XM_011514680.3:c.11314C>T | XP_011512982.1:p.Arg3772Ter | |
| XM_011514682.3:c.11176C>T | XP_011512984.1:p.Arg3726Ter | |
| XM_011514683.3:c.10672C>T | XP_011512985.1:p.Arg3558Ter | |
| XM_011514684.3:c.10603C>T | XP_011512986.1:p.Arg3535Ter | |
| XM_011514690.3:c.5389C>T | XP_011512992.1:p.Arg1797Ter | |
| XM_011514691.3:c.5389C>T | XP_011512993.1:p.Arg1797Ter | |
| XM_017010944.2:c.11314C>T | XP_016866433.1:p.Arg3772Ter | |
| XM_017010945.2:c.11239C>T | XP_016866434.1:p.Arg3747Ter | |
| XM_017010946.2:c.11119C>T | XP_016866435.1:p.Arg3707Ter | |
| XM_017010947.2:c.11050C>T | XP_016866436.1:p.Arg3684Ter | |
| XM_017010948.2:c.10603C>T | XP_016866437.1:p.Arg3535Ter | |
| XM_017010949.2:c.9454C>T | XP_016866438.1:p.Arg3152Ter | |
| XR_001743469.1:n.11604C>T | ||
| NM_138694.4:c.11314C>T MANE Select | NP_619639.3:p.Arg3772Ter |