Linked Data
ClinVar Variation Id:
500708
dbSNP Id:
rs757902182
ExAC:
X:31676178 A / G
gnomAD v2:
X-31676178-A-G
gnomAD v4:
X-31658061-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31658061A>G , CM000685.2:g.31658061A>G | GRCh38 |
| NC_000023.10:g.31676178A>G , CM000685.1:g.31676178A>G | GRCh37 |
| NC_000023.9:g.31586099A>G | NCBI36 |
| NG_012232.1:g.1686549T>C , LRG_199:g.1686549T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.2802T>C | ENSP00000350765.3:p.Ser934= | |
| ENST00000682238.1:c.576T>C | ENSP00000508124.1:p.Ser192= | |
| ENST00000683450.1:n.1421T>C | ||
| ENST00000683851.1:n.1617T>C | ||
| ENST00000683957.1:n.1448T>C | ||
| ENST00000684130.1:c.576T>C | ENSP00000508037.1:p.Ser192= | |
| ENST00000357033.9:c.7956T>C MANE Select | ENSP00000354923.3:p.Ser2652= | |
| ENST00000619831.5:c.3924T>C | ENSP00000479270.2:p.Ser1308= | |
| ENST00000620040.5:c.576T>C | ENSP00000478150.2:p.Ser192= | |
| ENST00000680961.1:c.576T>C | ENSP00000506386.1:p.Ser192= | |
| ENST00000681646.1:n.1617T>C | ||
| ENST00000357033.8:c.7956T>C | ENSP00000354923.3:p.Ser2652= | |
| ENST00000358062.6:c.1044T>C | ENSP00000350765.2:p.Ser348= | |
| ENST00000359836.5:c.576T>C | ENSP00000352894.1:p.Ser192= | |
| ENST00000378677.6:c.7944T>C | ENSP00000367948.2:p.Ser2648= | |
| ENST00000378707.7:c.576T>C | ENSP00000367979.3:p.Ser192= | |
| ENST00000474231.5:c.576T>C | ENSP00000417123.1:p.Ser192= | |
| ENST00000541735.5:c.576T>C | ENSP00000444119.1:p.Ser192= | |
| ENST00000619831.4:c.7941T>C | ENSP00000479270.1:p.Ser2647= | |
| ENST00000620040.4:c.7953T>C | ENSP00000478150.1:p.Ser2651= | |
| NM_000109.3:c.7932T>C | NP_000100.2:p.Ser2644= | |
| NM_004006.2:c.7956T>C , LRG_199t1:c.7956T>C | NP_003997.1:p.Ser2652= | |
| NM_004009.3:c.7944T>C | NP_004000.1:p.Ser2648= | |
| NM_004010.3:c.7587T>C | NP_004001.1:p.Ser2529= | |
| NM_004011.3:c.3933T>C | NP_004002.2:p.Ser1311= | |
| NM_004012.3:c.3924T>C | NP_004003.1:p.Ser1308= | |
| NM_004013.2:c.576T>C | NP_004004.1:p.Ser192= | |
| NM_004020.3:c.576T>C | NP_004011.2:p.Ser192= | |
| NM_004021.2:c.576T>C | NP_004012.1:p.Ser192= | |
| NM_004022.2:c.576T>C | NP_004013.1:p.Ser192= | |
| NM_004023.2:c.576T>C | NP_004014.1:p.Ser192= | |
| XM_006724468.2:c.7956T>C | XP_006724531.1:p.Ser2652= | |
| XM_006724469.2:c.7932T>C | XP_006724532.1:p.Ser2644= | |
| XM_006724470.2:c.7956T>C | XP_006724533.1:p.Ser2652= | |
| XM_006724471.2:c.7956T>C | XP_006724534.1:p.Ser2652= | |
| XM_006724472.2:c.7827T>C | XP_006724535.1:p.Ser2609= | |
| XM_006724473.2:c.7818T>C | XP_006724536.1:p.Ser2606= | |
| XM_006724474.2:c.7956T>C | XP_006724537.1:p.Ser2652= | |
| XM_006724475.2:c.7956T>C | XP_006724538.1:p.Ser2652= | |
| XM_011545467.1:c.7833T>C | XP_011543769.1:p.Ser2611= | |
| XM_011545468.1:c.7956T>C | XP_011543770.1:p.Ser2652= | |
| XM_006724469.3:c.7932T>C | XP_006724532.1:p.Ser2644= | |
| XM_006724470.3:c.7956T>C | XP_006724533.1:p.Ser2652= | |
| XM_006724474.3:c.7956T>C | XP_006724537.1:p.Ser2652= | |
| XM_011545468.2:c.7956T>C | XP_011543770.1:p.Ser2652= | |
| XM_017029328.1:c.7956T>C | XP_016884817.1:p.Ser2652= | |
| XM_017029331.1:c.2130T>C | XP_016884820.1:p.Ser710= | |
| NM_000109.4:c.7932T>C | NP_000100.3:p.Ser2644= | |
| NM_004006.3:c.7956T>C MANE Select | NP_003997.2:p.Ser2652= | |
| NM_004011.4:c.3933T>C | NP_004002.3:p.Ser1311= | |
| NM_004012.4:c.3924T>C | NP_004003.2:p.Ser1308= | |
| NM_004021.3:c.576T>C | NP_004012.2:p.Ser192= | |
| NM_004023.3:c.576T>C | NP_004014.2:p.Ser192= | |
| NM_004013.3:c.576T>C | NP_004004.2:p.Ser192= | |
| NM_004020.4:c.576T>C | NP_004011.3:p.Ser192= | |
| NM_004022.3:c.576T>C | NP_004013.2:p.Ser192= |