Linked Data
ClinVar Variation Id:
347971
dbSNP Id:
rs747844753
ExAC:
4:15981022 T / C
gnomAD v2:
4-15981022-T-C
gnomAD v4:
4-15979399-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15979399T>C , CM000666.2:g.15979399T>C | GRCh38 |
| NC_000004.11:g.15981022T>C , CM000666.1:g.15981022T>C | GRCh37 |
| NC_000004.10:g.15590120T>C | NCBI36 |
| NG_011696.1:g.109602A>G | |
| NG_011696.2:g.109661A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447510.7:c.2578A>G MANE Select | ENSP00000415481.2:p.Thr860Ala | |
| ENST00000513946.2:c.*2286A>G | ENSP00000424738.2:n.*2286A>G | |
| ENST00000539194.6:c.2489+1023A>G | ENSP00000443620.1:n.2489+1023A>G | |
| ENST00000540805.6:c.2486+482A>G | ENSP00000438045.2:n.2486+482A>G | |
| ENST00000675377.1:c.2513+482A>G | ENSP00000502545.1:n.2513+482A>G | |
| ENST00000675613.1:c.2462+1023A>G | ENSP00000501741.1:n.2462+1023A>G | |
| ENST00000447510.6:c.2578A>G | ENSP00000415481.2:p.Thr860Ala | |
| ENST00000503884.5:c.181+482A>G | ||
| ENST00000505450.5:c.2551A>G | ENSP00000426090.1:p.Thr851Ala | |
| ENST00000508167.5:c.2551A>G | ENSP00000427346.1:p.Thr851Ala | |
| ENST00000510224.5:c.2578A>G | ENSP00000426809.1:p.Thr860Ala | |
| ENST00000513946.1:c.264+482A>G | ||
| ENST00000539194.5:c.2489+1023A>G | ENSP00000443620.1:n.2489+1023A>G | |
| ENST00000540805.5:c.2513+482A>G | ENSP00000438045.1:n.2513+482A>G | |
| NM_001145847.1:c.2551A>G | NP_001139319.1:p.Thr851Ala | |
| NM_001145848.1:c.2551A>G | NP_001139320.1:p.Thr851Ala | |
| NM_001145849.1:c.2513+482A>G | NP_001139321.1:n.2513+482A>G | |
| NM_001145850.1:c.2489+1023A>G | NP_001139322.1:n.2489+1023A>G | |
| NM_001145851.1:c.2486+482A>G | NP_001139323.1:n.2486+482A>G | |
| NM_001145852.1:c.2462+1023A>G | NP_001139324.1:n.2462+1023A>G | |
| NM_006017.2:c.2578A>G | NP_006008.1:p.Thr860Ala | |
| XM_005248195.3:c.2486+482A>G | XP_005248252.1:n.2486+482A>G | |
| XM_005248196.3:c.2462+1023A>G | XP_005248253.1:n.2462+1023A>G | |
| XM_006713974.2:c.2344A>G | XP_006714037.1:p.Thr782Ala | |
| XM_011513890.1:c.2578A>G | XP_011512192.1:p.Thr860Ala | |
| XM_011513891.1:c.2578A>G | XP_011512193.1:p.Thr860Ala | |
| XM_011513892.1:c.2578A>G | XP_011512194.1:p.Thr860Ala | |
| XM_011513893.1:c.2578A>G | XP_011512195.1:p.Thr860Ala | |
| XM_011513894.1:c.2578A>G | XP_011512196.1:p.Thr860Ala | |
| XM_011513895.1:c.2578A>G | XP_011512197.1:p.Thr860Ala | |
| XM_011513896.1:c.2578A>G | XP_011512198.1:p.Thr860Ala | |
| XM_011513897.1:c.2578A>G | XP_011512199.1:p.Thr860Ala | |
| XM_011513900.1:c.2513+482A>G | XP_011512202.1:n.2513+482A>G | |
| XM_011513901.1:c.2485A>G | XP_011512203.1:p.Thr829Ala | |
| XM_011513902.1:c.2489+1023A>G | XP_011512204.1:n.2489+1023A>G | |
| XM_011513903.1:c.2371A>G | XP_011512205.1:p.Thr791Ala | |
| XM_011513904.1:c.2305A>G | XP_011512206.1:p.Thr769Ala | |
| XM_005248195.5:c.2486+482A>G | XP_005248252.1:n.2486+482A>G | |
| XM_005248196.5:c.2462+1023A>G | XP_005248253.1:n.2462+1023A>G | |
| XM_006713974.3:c.2344A>G | XP_006714037.1:p.Thr782Ala | |
| XM_011513892.2:c.2578A>G | XP_011512194.1:p.Thr860Ala | |
| XM_011513893.2:c.2578A>G | XP_011512195.1:p.Thr860Ala | |
| XM_011513894.3:c.2578A>G | XP_011512196.1:p.Thr860Ala | |
| XM_011513895.2:c.2578A>G | XP_011512197.1:p.Thr860Ala | |
| XM_011513896.2:c.2578A>G | XP_011512198.1:p.Thr860Ala | |
| XM_011513897.3:c.2578A>G | XP_011512199.1:p.Thr860Ala | |
| XM_011513900.2:c.2513+482A>G | XP_011512202.1:n.2513+482A>G | |
| XM_011513902.2:c.2489+1023A>G | XP_011512204.1:n.2489+1023A>G | |
| XM_011513903.2:c.2371A>G | XP_011512205.1:p.Thr791Ala | |
| XM_017008799.1:c.2551A>G | XP_016864288.1:p.Thr851Ala | |
| XM_017008802.1:c.2489+1023A>G | XP_016864291.1:n.2489+1023A>G | |
| XM_017008803.1:c.2462+1023A>G | XP_016864292.1:n.2462+1023A>G | |
| XM_017008804.1:c.2462+1023A>G | XP_016864293.1:n.2462+1023A>G | |
| XM_017008805.1:c.2462+1023A>G | XP_016864294.1:n.2462+1023A>G | |
| XM_024454276.1:c.2305A>G | XP_024310044.1:p.Thr769Ala | |
| NM_001145847.2:c.2551A>G | NP_001139319.1:p.Thr851Ala | |
| NM_001145848.2:c.2551A>G | NP_001139320.1:p.Thr851Ala | |
| NM_001145849.2:c.2513+482A>G | NP_001139321.1:n.2513+482A>G | |
| NM_001145850.2:c.2489+1023A>G | NP_001139322.1:n.2489+1023A>G | |
| NM_001145851.2:c.2486+482A>G | NP_001139323.1:n.2486+482A>G | |
| NM_001145852.2:c.2462+1023A>G | NP_001139324.1:n.2462+1023A>G | |
| NM_001371406.1:c.2551A>G | NP_001358335.1:p.Thr851Ala | |
| NM_001371407.1:c.2462+1023A>G | NP_001358336.1:n.2462+1023A>G | |
| NM_001371408.1:c.2462+1023A>G | NP_001358337.1:n.2462+1023A>G | |
| NM_006017.3:c.2578A>G MANE Select | NP_006008.1:p.Thr860Ala |