Linked Data
ClinVar Variation Id:
30383
ClinVar RCV Id:
RCV000023333
dbSNP Id:
rs200190472
ExAC:
4:89039366 G / A
gnomAD v2:
4-89039366-G-A
gnomAD v3:
4-88118214-G-A
gnomAD v4:
4-88118214-G-A
PubMed:
PMID:22246507
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88118214G>A , CM000666.2:g.88118214G>A | GRCh38 |
| NC_000004.11:g.89039366G>A , CM000666.1:g.89039366G>A | GRCh37 |
| NC_000004.10:g.89258390G>A | NCBI36 |
| NG_032067.2:g.118109C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237612.8:c.736C>T MANE Select | ENSP00000237612.3:p.Arg246Ter | |
| ENST00000650821.1:c.736C>T | ENSP00000498246.1:p.Arg246Ter | |
| ENST00000237612.7:c.736C>T | ENSP00000237612.3:p.Arg246Ter | |
| ENST00000515655.5:c.736C>T | ENSP00000426917.1:p.Arg246Ter | |
| NM_001257386.1:c.736C>T | NP_001244315.1:p.Arg246Ter | |
| NM_004827.2:c.736C>T | NP_004818.2:p.Arg246Ter | |
| XM_005263354.2:c.736C>T | XP_005263411.1:p.Arg246Ter | |
| XM_005263355.2:c.736C>T | XP_005263412.1:p.Arg246Ter | |
| XM_005263356.2:c.736C>T | XP_005263413.1:p.Arg246Ter | |
| XM_011532420.1:c.736C>T | XP_011530722.1:p.Arg246Ter | |
| NM_001257386.2:c.736C>T | NP_001244315.1:p.Arg246Ter | |
| NM_001348985.1:c.736C>T | NP_001335914.1:p.Arg246Ter | |
| NM_001348986.1:c.736C>T | NP_001335915.1:p.Arg246Ter | |
| NM_001348987.1:c.736C>T | NP_001335916.1:p.Arg246Ter | |
| NM_001348988.1:c.736C>T | NP_001335917.1:p.Arg246Ter | |
| NM_001348989.1:c.736C>T | NP_001335918.1:p.Arg246Ter | |
| XM_005263355.4:c.736C>T | XP_005263412.1:p.Arg246Ter | |
| XM_011532420.3:c.736C>T | XP_011530722.1:p.Arg246Ter | |
| XM_017008852.2:c.736C>T | XP_016864341.1:p.Arg246Ter | |
| NM_004827.3:c.736C>T MANE Select | NP_004818.2:p.Arg246Ter | |
| NM_001348989.2:c.736C>T | NP_001335918.1:p.Arg246Ter |