Linked Data
ClinVar Variation Id:
94806
dbSNP Id:
rs398124071
ExAC:
X:31515053 A / G
gnomAD v2:
X-31515053-A-G
gnomAD v3:
X-31496936-A-G
gnomAD v4:
X-31496936-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.31496936A>G , CM000685.2:g.31496936A>G | GRCh38 |
| NC_000023.10:g.31515053A>G , CM000685.1:g.31515053A>G | GRCh37 |
| NC_000023.9:g.31424974A>G | NCBI36 |
| NG_012232.1:g.1847674T>C , LRG_199:g.1847674T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358062.7:c.3245T>C | ENSP00000350765.3:p.Leu1082Ser | |
| ENST00000682238.1:c.1019T>C | ENSP00000508124.1:p.Leu340Ser | |
| ENST00000683450.1:n.1864T>C | ||
| ENST00000683957.1:n.1891T>C | ||
| ENST00000684130.1:c.1019T>C | ENSP00000508037.1:p.Leu340Ser | |
| ENST00000343523.7:c.254T>C | ENSP00000340057.4:p.Leu85Ser | |
| ENST00000357033.9:c.8399T>C MANE Select | ENSP00000354923.3:p.Leu2800Ser | |
| ENST00000619831.5:c.4367T>C | ENSP00000479270.2:p.Leu1456Ser | |
| ENST00000620040.5:c.1019T>C | ENSP00000478150.2:p.Leu340Ser | |
| ENST00000680961.1:c.1019T>C | ENSP00000506386.1:p.Leu340Ser | |
| ENST00000681646.1:n.2060T>C | ||
| ENST00000343523.6:c.212T>C | ENSP00000340057.3:p.Leu71Ser | |
| ENST00000357033.8:c.8399T>C | ENSP00000354923.3:p.Leu2800Ser | |
| ENST00000358062.6:c.1487T>C | ENSP00000350765.2:p.Leu496Ser | |
| ENST00000359836.5:c.1019T>C | ENSP00000352894.1:p.Leu340Ser | |
| ENST00000378677.6:c.8387T>C | ENSP00000367948.2:p.Leu2796Ser | |
| ENST00000378707.7:c.1019T>C | ENSP00000367979.3:p.Leu340Ser | |
| ENST00000445312.1:n.456T>C | ||
| ENST00000474231.5:c.1019T>C | ENSP00000417123.1:p.Leu340Ser | |
| ENST00000541735.5:c.1019T>C | ENSP00000444119.1:p.Leu340Ser | |
| ENST00000619831.4:c.8384T>C | ENSP00000479270.1:p.Leu2795Ser | |
| ENST00000620040.4:c.8396T>C | ENSP00000478150.1:p.Leu2799Ser | |
| NM_000109.3:c.8375T>C | NP_000100.2:p.Leu2792Ser | |
| NM_004006.2:c.8399T>C , LRG_199t1:c.8399T>C | NP_003997.1:p.Leu2800Ser | |
| NM_004009.3:c.8387T>C | NP_004000.1:p.Leu2796Ser | |
| NM_004010.3:c.8030T>C | NP_004001.1:p.Leu2677Ser | |
| NM_004011.3:c.4376T>C | NP_004002.2:p.Leu1459Ser | |
| NM_004012.3:c.4367T>C | NP_004003.1:p.Leu1456Ser | |
| NM_004013.2:c.1019T>C | NP_004004.1:p.Leu340Ser | |
| NM_004014.2:c.212T>C | NP_004005.1:p.Leu71Ser | |
| NM_004020.3:c.1019T>C | NP_004011.2:p.Leu340Ser | |
| NM_004021.2:c.1019T>C | NP_004012.1:p.Leu340Ser | |
| NM_004022.2:c.1019T>C | NP_004013.1:p.Leu340Ser | |
| NM_004023.2:c.1019T>C | NP_004014.1:p.Leu340Ser | |
| XM_006724468.2:c.8399T>C | XP_006724531.1:p.Leu2800Ser | |
| XM_006724469.2:c.8375T>C | XP_006724532.1:p.Leu2792Ser | |
| XM_006724470.2:c.8399T>C | XP_006724533.1:p.Leu2800Ser | |
| XM_006724471.2:c.8399T>C | XP_006724534.1:p.Leu2800Ser | |
| XM_006724472.2:c.8270T>C | XP_006724535.1:p.Leu2757Ser | |
| XM_006724473.2:c.8261T>C | XP_006724536.1:p.Leu2754Ser | |
| XM_006724474.2:c.8399T>C | XP_006724537.1:p.Leu2800Ser | |
| XM_006724475.2:c.8399T>C | XP_006724538.1:p.Leu2800Ser | |
| XM_011545467.1:c.8276T>C | XP_011543769.1:p.Leu2759Ser | |
| XM_011545468.1:c.8399T>C | XP_011543770.1:p.Leu2800Ser | |
| XM_006724469.3:c.8375T>C | XP_006724532.1:p.Leu2792Ser | |
| XM_006724470.3:c.8399T>C | XP_006724533.1:p.Leu2800Ser | |
| XM_006724474.3:c.8399T>C | XP_006724537.1:p.Leu2800Ser | |
| XM_011545468.2:c.8399T>C | XP_011543770.1:p.Leu2800Ser | |
| XM_017029328.1:c.8399T>C | XP_016884817.1:p.Leu2800Ser | |
| XM_017029331.1:c.2573T>C | XP_016884820.1:p.Leu858Ser | |
| NM_000109.4:c.8375T>C | NP_000100.3:p.Leu2792Ser | |
| NM_004006.3:c.8399T>C MANE Select | NP_003997.2:p.Leu2800Ser | |
| NM_004011.4:c.4376T>C | NP_004002.3:p.Leu1459Ser | |
| NM_004012.4:c.4367T>C | NP_004003.2:p.Leu1456Ser | |
| NM_004021.3:c.1019T>C | NP_004012.2:p.Leu340Ser | |
| NM_004023.3:c.1019T>C | NP_004014.2:p.Leu340Ser | |
| NM_004013.3:c.1019T>C | NP_004004.2:p.Leu340Ser | |
| NM_004014.3:c.212T>C | NP_004005.2:p.Leu71Ser | |
| NM_004020.4:c.1019T>C | NP_004011.3:p.Leu340Ser | |
| NM_004022.3:c.1019T>C | NP_004013.2:p.Leu340Ser |