Linked Data
ClinVar Variation Id:
1632361
ClinVar RCV Id:
RCV002130413
dbSNP Id:
rs2115224289
gnomAD v4:
6-136869892-T-C
MyVariant Identifiers:
chr6:g.137191030T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136869892T>C , CM000668.2:g.136869892T>C | GRCh38 |
| NC_000006.11:g.137191030T>C , CM000668.1:g.137191030T>C | GRCh37 |
| NC_000006.10:g.137232723T>C | NCBI36 |
| NG_008462.1:g.52313T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318471.5:c.636T>C MANE Select | ENSP00000315680.3:p.Asn212= | |
| ENST00000541292.6:c.636T>C | ENSP00000441004.1:p.Asn212= | |
| ENST00000678002.1:c.324T>C | ||
| ENST00000678557.1:c.522T>C | ENSP00000502962.1:p.Asn174= | |
| ENST00000678593.1:c.641T>C | ENSP00000503841.1:n.641T>C | |
| ENST00000679286.1:c.516T>C | ENSP00000503168.1:p.Asn172= | |
| ENST00000318471.4:c.636T>C | ENSP00000315680.3:p.Asn212= | |
| ENST00000541292.5:c.636T>C | ENSP00000441004.1:p.Asn212= | |
| NM_000288.3:c.636T>C | NP_000279.1:p.Asn212= | |
| XM_005267019.3:c.522T>C | XP_005267076.1:p.Asn174= | |
| XM_006715502.1:c.342T>C | XP_006715565.1:p.Asn114= | |
| XM_011535900.1:c.526+23711T>C | XP_011534202.1:n.526+23711T>C | |
| XM_005267019.4:c.522T>C | XP_005267076.1:p.Asn174= | |
| XM_006715502.2:c.342T>C | XP_006715565.1:p.Asn114= | |
| XM_017010934.2:c.526+23711T>C | XP_016866423.1:n.526+23711T>C | |
| NM_000288.4:c.636T>C MANE Select | NP_000279.1:p.Asn212= |