Linked Data
dbSNP Id:
rs773883509
ExAC:
12:124228409 C / G
gnomAD v2:
12-124228409-C-G
gnomAD v3:
12-123743862-C-G
gnomAD v4:
12-123743862-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123743862C>G , CM000674.2:g.123743862C>G | GRCh38 |
| NC_000012.11:g.124228409C>G , CM000674.1:g.124228409C>G | GRCh37 |
| NC_000012.10:g.122794362C>G | NCBI36 |
| NG_012743.1:g.36545C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.1116C>G MANE Select | ENSP00000332247.2:p.Thr372= | |
| ENST00000540368.6:n.1147C>G | ||
| ENST00000674794.1:c.1204C>G | ||
| ENST00000675260.1:n.391C>G | ||
| ENST00000675344.1:c.*137C>G | ENSP00000501953.1:n.*137C>G | |
| ENST00000330342.7:c.1116C>G | ENSP00000332247.2:p.Thr372= | |
| ENST00000504192.2:c.726C>G | ENSP00000443441.1:p.Thr242= | |
| ENST00000536426.1:n.133C>G | ||
| ENST00000545059.5:n.3752C>G | ||
| NM_012463.3:c.1116C>G | NP_036595.2:p.Thr372= | |
| XM_005253563.1:c.1116C>G | XP_005253620.1:p.Thr372= | |
| XM_006719317.2:c.603C>G | XP_006719380.1:p.Thr201= | |
| XM_006719318.2:c.294C>G | XP_006719381.1:p.Thr98= | |
| XR_429088.1:n.1279C>G | ||
| XM_024448910.1:c.1116C>G | XP_024304678.1:p.Thr372= | |
| XM_024448911.1:c.603C>G | XP_024304679.1:p.Thr201= | |
| XM_024448912.1:c.294C>G | XP_024304680.1:p.Thr98= | |
| NM_012463.4:c.1116C>G MANE Select | NP_036595.2:p.Thr372= |