Linked Data
dbSNP Id:
rs2076750447
gnomAD v4:
1-16986878-G-C
MyVariant Identifiers:
chr1:g.17313373G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16986878G>C , CM000663.2:g.16986878G>C | GRCh38 |
| NC_000001.10:g.17313373G>C , CM000663.1:g.17313373G>C | GRCh37 |
| NC_000001.9:g.17185960G>C | NCBI36 |
| NG_009054.1:g.30051C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326735.13:c.3162C>G MANE Select | ENSP00000327214.8:p.Ser1054= | |
| ENST00000326735.12:c.3162C>G | ENSP00000327214.8:p.Ser1054= | |
| ENST00000341676.9:c.3030C>G | ENSP00000341115.5:p.Ser1010= | |
| ENST00000452699.5:c.3147C>G | ENSP00000413307.1:p.Ser1049= | |
| ENST00000466561.1:n.1036C>G | ||
| ENST00000502418.1:c.750C>G | ENSP00000423065.1:p.Ser250= | |
| NM_001141973.2:c.3147C>G | NP_001135445.1:p.Ser1049= | |
| NM_001141974.2:c.3030C>G | NP_001135446.1:p.Ser1010= | |
| NM_022089.3:c.3162C>G | NP_071372.1:p.Ser1054= | |
| XM_005245809.1:c.3162C>G | XP_005245866.1:p.Ser1054= | |
| XM_005245810.1:c.3159C>G | XP_005245867.1:p.Ser1053= | |
| XM_005245811.1:c.3147C>G | XP_005245868.1:p.Ser1049= | |
| XM_005245812.1:c.3135C>G | XP_005245869.1:p.Ser1045= | |
| XM_005245813.1:c.3102C>G | XP_005245870.1:p.Ser1034= | |
| XM_005245815.1:c.3045C>G | XP_005245872.1:p.Ser1015= | |
| XM_006710512.1:c.3144C>G | XP_006710575.1:p.Ser1048= | |
| XM_006710513.1:c.3120C>G | XP_006710576.1:p.Ser1040= | |
| XM_011541128.1:c.3147C>G | XP_011539430.1:p.Ser1049= | |
| XM_011541129.1:c.2955C>G | XP_011539431.1:p.Ser985= | |
| XM_017000844.1:c.3147C>G | XP_016856333.1:p.Ser1049= | |
| XM_017000845.1:c.3144C>G | XP_016856334.1:p.Ser1048= | |
| XM_017000846.1:c.3120C>G | XP_016856335.1:p.Ser1040= | |
| XM_017000847.1:c.3117C>G | XP_016856336.1:p.Ser1039= | |
| XM_017000848.1:c.3045C>G | XP_016856337.1:p.Ser1015= | |
| XM_017000849.1:c.3030C>G | XP_016856338.1:p.Ser1010= | |
| XM_017000850.1:c.2955C>G | XP_016856339.1:p.Ser985= | |
| NM_022089.4:c.3162C>G MANE Select | NP_071372.1:p.Ser1054= | |
| NM_001141973.3:c.3147C>G | NP_001135445.1:p.Ser1049= | |
| NM_001141974.3:c.3030C>G | NP_001135446.1:p.Ser1010= |