Linked Data
ClinVar Variation Id:
188754
ClinVar RCV Id:
RCV000169068
dbSNP Id:
rs746471701
ExAC:
6:51497504 G / A
gnomAD v2:
6-51497504-G-A
gnomAD v3:
6-51632706-G-A
gnomAD v4:
6-51632706-G-A
COSMIC:
COSM3430741
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.51632706G>A , CM000668.2:g.51632706G>A | GRCh38 |
| NC_000006.11:g.51497504G>A , CM000668.1:g.51497504G>A | GRCh37 |
| NC_000006.10:g.51605463G>A | NCBI36 |
| NG_008753.1:g.459920C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371117.8:c.11524C>T MANE Select | ENSP00000360158.3:p.Arg3842Ter | |
| ENST00000371117.7:c.11524C>T | ENSP00000360158.3:p.Arg3842Ter | |
| NM_138694.3:c.11524C>T | NP_619639.3:p.Arg3842Ter | |
| XM_011514679.1:c.11524C>T | XP_011512981.1:p.Arg3842Ter | |
| XM_011514680.1:c.11524C>T | XP_011512982.1:p.Arg3842Ter | |
| XM_011514681.1:c.11395C>T | XP_011512983.1:p.Arg3799Ter | |
| XM_011514682.1:c.11386C>T | XP_011512984.1:p.Arg3796Ter | |
| XM_011514683.1:c.10882C>T | XP_011512985.1:p.Arg3628Ter | |
| XM_011514684.1:c.10813C>T | XP_011512986.1:p.Arg3605Ter | |
| XM_011514690.1:c.5599C>T | XP_011512992.1:p.Arg1867Ter | |
| XM_011514691.1:c.5599C>T | XP_011512993.1:p.Arg1867Ter | |
| XM_011514680.3:c.11524C>T | XP_011512982.1:p.Arg3842Ter | |
| XM_011514682.3:c.11386C>T | XP_011512984.1:p.Arg3796Ter | |
| XM_011514683.3:c.10882C>T | XP_011512985.1:p.Arg3628Ter | |
| XM_011514684.3:c.10813C>T | XP_011512986.1:p.Arg3605Ter | |
| XM_011514690.3:c.5599C>T | XP_011512992.1:p.Arg1867Ter | |
| XM_011514691.3:c.5599C>T | XP_011512993.1:p.Arg1867Ter | |
| XM_017010944.2:c.11524C>T | XP_016866433.1:p.Arg3842Ter | |
| XM_017010945.2:c.11449C>T | XP_016866434.1:p.Arg3817Ter | |
| XM_017010946.2:c.11329C>T | XP_016866435.1:p.Arg3777Ter | |
| XM_017010947.2:c.11260C>T | XP_016866436.1:p.Arg3754Ter | |
| XM_017010948.2:c.10813C>T | XP_016866437.1:p.Arg3605Ter | |
| XM_017010949.2:c.9664C>T | XP_016866438.1:p.Arg3222Ter | |
| NM_138694.4:c.11524C>T MANE Select | NP_619639.3:p.Arg3842Ter |