Linked Data
ClinVar Variation Id:
2146404
ClinVar RCV Id:
RCV003067110
dbSNP Id:
rs977397943
gnomAD v2:
6-157522175-G-A
gnomAD v3:
6-157201041-G-A
gnomAD v4:
6-157201041-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157201041G>A , CM000668.2:g.157201041G>A | GRCh38 |
| NC_000006.11:g.157522175G>A , CM000668.1:g.157522175G>A | GRCh37 |
| NC_000006.10:g.157563867G>A | NCBI36 |
| NG_032093.1:g.428112G>A | |
| NG_032093.2:g.428112G>A | |
| NG_066624.1:g.430016G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.4657G>A | ENSP00000055163.8:p.Gly1553Ser | |
| ENST00000414678.8:c.4726G>A | ENSP00000412835.3:p.Gly1576Ser | |
| ENST00000637015.2:c.4945G>A | ENSP00000489729.2:p.Gly1649Ser | |
| ENST00000346085.10:c.4696G>A | ENSP00000344546.5:p.Gly1566Ser | |
| ENST00000350026.10:c.4408G>A | ENSP00000055163.7:p.Gly1470Ser | |
| ENST00000414678.7:c.2974G>A | ENSP00000412835.2:p.Gly992Ser | |
| ENST00000635849.1:c.2137G>A | ENSP00000490948.1:p.Gly713Ser | |
| ENST00000635957.1:c.1768G>A | ENSP00000490385.1:p.Gly590Ser | |
| ENST00000636227.1:n.3279G>A | ||
| ENST00000636254.1:n.736G>A | ||
| ENST00000636930.2:c.4816G>A MANE Select | ENSP00000490491.2:p.Gly1606Ser | |
| ENST00000636940.1:n.2813G>A | ||
| ENST00000637015.1:c.2184G>A | ||
| ENST00000637568.1:c.2098G>A | ||
| ENST00000637741.1:n.1482G>A | ||
| ENST00000637810.1:c.2158G>A | ENSP00000489636.1:p.Gly720Ser | |
| ENST00000637904.1:c.2317G>A | ENSP00000490550.1:p.Gly773Ser | |
| ENST00000647938.1:c.4447G>A | ENSP00000498155.1:p.Gly1483Ser | |
| ENST00000346085.9:c.4447G>A | ENSP00000344546.4:p.Gly1483Ser | |
| ENST00000350026.9:c.4408G>A | ENSP00000055163.7:p.Gly1470Ser | |
| ENST00000414678.6:c.2974G>A | ENSP00000412835.2:p.Gly992Ser | |
| NM_017519.2:c.4408G>A | NP_059989.2:p.Gly1470Ser | |
| NM_020732.3:c.4447G>A | NP_065783.3:p.Gly1483Ser | |
| XM_005267069.3:c.4567G>A | XP_005267126.2:p.Gly1523Ser | |
| XM_011535984.1:c.3646G>A | XP_011534286.1:p.Gly1216Ser | |
| XM_011535985.1:c.3466G>A | XP_011534287.1:p.Gly1156Ser | |
| XM_011535986.1:c.3226G>A | XP_011534288.1:p.Gly1076Ser | |
| XM_011535987.1:c.2845G>A | XP_011534289.1:p.Gly949Ser | |
| XM_011535988.1:c.1708G>A | XP_011534290.1:p.Gly570Ser | |
| NM_001346813.1:c.4567G>A | NP_001333742.1:p.Gly1523Ser | |
| NM_001363725.1:c.2317G>A | NP_001350654.1:p.Gly773Ser | |
| XM_011535984.2:c.4777G>A | XP_011534286.2:p.Gly1593Ser | |
| XM_011535988.3:c.1708G>A | XP_011534290.1:p.Gly570Ser | |
| XM_017011103.2:c.4678G>A | XP_016866592.1:p.Gly1560Ser | |
| XM_017011104.1:c.4648G>A | XP_016866593.1:p.Gly1550Ser | |
| XM_017011105.2:c.4618G>A | XP_016866594.1:p.Gly1540Ser | |
| XM_017011106.2:c.4489G>A | XP_016866595.1:p.Gly1497Ser | |
| XM_017011107.2:c.4468G>A | XP_016866596.1:p.Gly1490Ser | |
| XR_002956289.1:n.4763G>A | ||
| NM_001363725.2:c.2317G>A | NP_001350654.1:p.Gly773Ser | |
| NM_001371656.1:c.4696G>A | NP_001358585.1:p.Gly1566Ser | |
| NM_001374820.1:c.4696G>A | NP_001361749.1:p.Gly1566Ser | |
| NM_001374828.1:c.4816G>A MANE Select | NP_001361757.1:p.Gly1606Ser | |
| NM_017519.3:c.4657G>A | NP_059989.3:p.Gly1553Ser |