Linked Data
ClinVar Variation Id:
183971
dbSNP Id:
rs374310157
ExAC:
5:112177678 G / A
gnomAD v2:
5-112177678-G-A
gnomAD v3:
5-112841981-G-A
gnomAD v4:
5-112841981-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112841981G>A , CM000667.2:g.112841981G>A | GRCh38 |
| NC_000005.9:g.112177678G>A , CM000667.1:g.112177678G>A | GRCh37 |
| NC_000005.8:g.112205577G>A | NCBI36 |
| NG_008481.4:g.154461G>A , LRG_130:g.154461G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000504915.3:c.6441G>A | ENSP00000473355.2:p.Ser2147= | |
| ENST00000505350.2:c.*6393G>A | ENSP00000481752.1:n.*6393G>A | |
| ENST00000507379.6:c.6333G>A | ENSP00000423224.2:p.Ser2111= | |
| ENST00000509732.6:c.6387G>A | ENSP00000426541.2:p.Ser2129= | |
| ENST00000512211.7:c.6387G>A | ENSP00000423828.3:p.Ser2129= | |
| ENST00000257430.9:c.6387G>A MANE Select | ENSP00000257430.4:p.Ser2129= | |
| ENST00000257430.8:c.6387G>A | ENSP00000257430.4:p.Ser2129= | |
| ENST00000508376.6:c.6387G>A | ENSP00000427089.2:p.Ser2129= | |
| ENST00000508624.5:c.*5709G>A | ENSP00000424265.1:n.*5709G>A | |
| ENST00000520401.1:c.230+13009G>A | ||
| NM_000038.5:c.6387G>A | NP_000029.2:p.Ser2129= | |
| NM_001127510.2:c.6387G>A | NP_001120982.1:p.Ser2129= | |
| NM_001127511.2:c.6333G>A | NP_001120983.2:p.Ser2111= | |
| NM_001354895.1:c.6387G>A | NP_001341824.1:p.Ser2129= | |
| NM_001354896.1:c.6441G>A | NP_001341825.1:p.Ser2147= | |
| NM_001354897.1:c.6417G>A | NP_001341826.1:p.Ser2139= | |
| NM_001354898.1:c.6312G>A | NP_001341827.1:p.Ser2104= | |
| NM_001354899.1:c.6303G>A | NP_001341828.1:p.Ser2101= | |
| NM_001354900.1:c.6264G>A | NP_001341829.1:p.Ser2088= | |
| NM_001354901.1:c.6210G>A | NP_001341830.1:p.Ser2070= | |
| NM_001354902.1:c.6114G>A | NP_001341831.1:p.Ser2038= | |
| NM_001354903.1:c.6084G>A | NP_001341832.1:p.Ser2028= | |
| NM_001354904.1:c.6009G>A | NP_001341833.1:p.Ser2003= | |
| NM_001354905.1:c.5907G>A | NP_001341834.1:p.Ser1969= | |
| NM_001354906.1:c.5538G>A | NP_001341835.1:p.Ser1846= | |
| NM_000038.6:c.6387G>A MANE Select | NP_000029.2:p.Ser2129= | |
| NM_001127510.3:c.6387G>A | NP_001120982.1:p.Ser2129= | |
| NM_001127511.3:c.6333G>A | NP_001120983.2:p.Ser2111= | |
| NM_001354895.2:c.6387G>A | NP_001341824.1:p.Ser2129= | |
| NM_001354896.2:c.6441G>A | NP_001341825.1:p.Ser2147= | |
| NM_001354897.2:c.6417G>A | NP_001341826.1:p.Ser2139= | |
| NM_001354898.2:c.6312G>A | NP_001341827.1:p.Ser2104= | |
| NM_001354899.2:c.6303G>A | NP_001341828.1:p.Ser2101= | |
| NM_001354900.2:c.6264G>A | NP_001341829.1:p.Ser2088= | |
| NM_001354901.2:c.6210G>A | NP_001341830.1:p.Ser2070= | |
| NM_001354902.2:c.6114G>A | NP_001341831.1:p.Ser2038= | |
| NM_001354903.2:c.6084G>A | NP_001341832.1:p.Ser2028= | |
| NM_001354904.2:c.6009G>A | NP_001341833.1:p.Ser2003= | |
| NM_001354905.2:c.5907G>A | NP_001341834.1:p.Ser1969= | |
| NM_001354906.2:c.5538G>A | NP_001341835.1:p.Ser1846= |