Linked Data
ClinVar Variation Id:
1640924
ClinVar RCV Id:
RCV002139997
dbSNP Id:
rs56126202
gnomAD v4:
1-16986896-G-A
MyVariant Identifiers:
chr1:g.17313391G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16986896G>A , CM000663.2:g.16986896G>A | GRCh38 |
| NC_000001.10:g.17313391G>A , CM000663.1:g.17313391G>A | GRCh37 |
| NC_000001.9:g.17185978G>A | NCBI36 |
| NG_009054.1:g.30033C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326735.13:c.3144C>T MANE Select | ENSP00000327214.8:p.Thr1048= | |
| ENST00000326735.12:c.3144C>T | ENSP00000327214.8:p.Thr1048= | |
| ENST00000341676.9:c.3012C>T | ENSP00000341115.5:p.Thr1004= | |
| ENST00000452699.5:c.3129C>T | ENSP00000413307.1:p.Thr1043= | |
| ENST00000466561.1:n.1018C>T | ||
| ENST00000502418.1:c.732C>T | ENSP00000423065.1:p.Thr244= | |
| NM_001141973.2:c.3129C>T | NP_001135445.1:p.Thr1043= | |
| NM_001141974.2:c.3012C>T | NP_001135446.1:p.Thr1004= | |
| NM_022089.3:c.3144C>T | NP_071372.1:p.Thr1048= | |
| XM_005245809.1:c.3144C>T | XP_005245866.1:p.Thr1048= | |
| XM_005245810.1:c.3141C>T | XP_005245867.1:p.Thr1047= | |
| XM_005245811.1:c.3129C>T | XP_005245868.1:p.Thr1043= | |
| XM_005245812.1:c.3117C>T | XP_005245869.1:p.Thr1039= | |
| XM_005245813.1:c.3084C>T | XP_005245870.1:p.Thr1028= | |
| XM_005245815.1:c.3027C>T | XP_005245872.1:p.Thr1009= | |
| XM_006710512.1:c.3126C>T | XP_006710575.1:p.Thr1042= | |
| XM_006710513.1:c.3102C>T | XP_006710576.1:p.Thr1034= | |
| XM_011541128.1:c.3129C>T | XP_011539430.1:p.Thr1043= | |
| XM_011541129.1:c.2937C>T | XP_011539431.1:p.Thr979= | |
| XM_017000844.1:c.3129C>T | XP_016856333.1:p.Thr1043= | |
| XM_017000845.1:c.3126C>T | XP_016856334.1:p.Thr1042= | |
| XM_017000846.1:c.3102C>T | XP_016856335.1:p.Thr1034= | |
| XM_017000847.1:c.3099C>T | XP_016856336.1:p.Thr1033= | |
| XM_017000848.1:c.3027C>T | XP_016856337.1:p.Thr1009= | |
| XM_017000849.1:c.3012C>T | XP_016856338.1:p.Thr1004= | |
| XM_017000850.1:c.2937C>T | XP_016856339.1:p.Thr979= | |
| NM_022089.4:c.3144C>T MANE Select | NP_071372.1:p.Thr1048= | |
| NM_001141973.3:c.3129C>T | NP_001135445.1:p.Thr1043= | |
| NM_001141974.3:c.3012C>T | NP_001135446.1:p.Thr1004= |