Linked Data
dbSNP Id:
rs773313019
ExAC:
6:31691733 A / G
gnomAD v2:
6-31691733-A-G
gnomAD v4:
6-31723956-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31723956A>G , CM000668.2:g.31723956A>G | GRCh38 |
| NC_000006.11:g.31691733A>G , CM000668.1:g.31691733A>G | GRCh37 |
| NC_000006.10:g.31799712A>G | NCBI36 |
| NG_029044.1:g.5613A>G | |
| NG_029044.2:g.5613A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649779.1:c.379A>G MANE Select | ENSP00000497720.1:p.Thr127Ala | |
| ENST00000375804.6:c.379A>G | ENSP00000364962.2:p.Thr127Ala | |
| ENST00000375805.6:c.379A>G | ENSP00000364963.2:p.Thr127Ala | |
| ENST00000375806.2:c.379A>G | ENSP00000364964.2:p.Thr127Ala | |
| ENST00000375809.7:c.379A>G | ENSP00000364967.3:p.Thr127Ala | |
| ENST00000375810.8:c.379A>G | ENSP00000364968.4:p.Thr127Ala | |
| ENST00000375814.7:c.379A>G | ENSP00000364972.3:p.Thr127Ala | |
| ENST00000460663.5:n.586A>G | ||
| ENST00000466312.5:n.383A>G | ||
| ENST00000471545.1:n.379A>G | ||
| ENST00000480039.5:c.379A>G | ENSP00000419306.1:p.Thr127Ala | |
| ENST00000485548.5:c.268+111A>G | ENSP00000420355.1:n.268+111A>G | |
| NM_025260.3:c.379A>G | NP_079536.2:p.Thr127Ala | |
| NM_138272.2:c.379A>G | NP_612116.1:p.Thr127Ala | |
| NM_138273.2:c.379A>G | NP_612117.1:p.Thr127Ala | |
| NM_138274.2:c.379A>G | NP_612118.1:p.Thr127Ala | |
| NM_138275.2:c.379A>G | NP_612119.1:p.Thr127Ala | |
| NM_138277.2:c.379A>G | NP_612121.1:p.Thr127Ala | |
| XM_011514920.1:c.427A>G | XP_011513222.1:p.Thr143Ala | |
| XM_011514921.1:c.427A>G | XP_011513223.1:p.Thr143Ala | |
| XM_011514920.2:c.427A>G | XP_011513222.1:p.Thr143Ala | |
| XM_011514921.2:c.427A>G | XP_011513223.1:p.Thr143Ala | |
| XM_017011330.1:c.427A>G | XP_016866819.1:p.Thr143Ala | |
| XM_017011331.1:c.379A>G | XP_016866820.1:p.Thr127Ala | |
| XM_017011332.1:c.427A>G | XP_016866821.1:p.Thr143Ala | |
| XM_017011333.1:c.427A>G | XP_016866822.1:p.Thr143Ala | |
| NM_025260.4:c.379A>G | NP_079536.2:p.Thr127Ala | |
| NM_138272.3:c.379A>G MANE Select | NP_612116.1:p.Thr127Ala | |
| NM_138273.3:c.379A>G | NP_612117.1:p.Thr127Ala | |
| NM_138274.3:c.379A>G | NP_612118.1:p.Thr127Ala | |
| NM_138275.3:c.379A>G | NP_612119.1:p.Thr127Ala | |
| NM_138277.3:c.379A>G | NP_612121.1:p.Thr127Ala |