Linked Data
ClinVar Variation Id:
41510
ClinVar RCV Id:
RCV000034395
RCV000115114
RCV000211930
RCV000515374
RCV000664301
RCV000987580
RCV001151801
RCV001353961
RCV003944874
RCV003534318
dbSNP Id:
rs201375478
ExAC:
5:112178015 A / G
gnomAD v2:
5-112178015-A-G
gnomAD v3:
5-112842318-A-G
gnomAD v4:
5-112842318-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842318A>G , CM000667.2:g.112842318A>G | GRCh38 |
| NC_000005.9:g.112178015A>G , CM000667.1:g.112178015A>G | GRCh37 |
| NC_000005.8:g.112205914A>G | NCBI36 |
| NG_008481.4:g.154798A>G , LRG_130:g.154798A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.6778A>G | ENSP00000473355.2:p.Ser2260Gly | |
| ENST00000505350.2:c.*6730A>G | ENSP00000481752.1:n.*6730A>G | |
| ENST00000507379.6:c.6670A>G | ENSP00000423224.2:p.Ser2224Gly | |
| ENST00000509732.6:c.6724A>G | ENSP00000426541.2:p.Ser2242Gly | |
| ENST00000512211.7:c.6724A>G | ENSP00000423828.3:p.Ser2242Gly | |
| ENST00000257430.9:c.6724A>G MANE Select | ENSP00000257430.4:p.Ser2242Gly | |
| ENST00000257430.8:c.6724A>G | ENSP00000257430.4:p.Ser2242Gly | |
| ENST00000508376.6:c.6724A>G | ENSP00000427089.2:p.Ser2242Gly | |
| ENST00000508624.5:c.*6046A>G | ENSP00000424265.1:n.*6046A>G | |
| ENST00000520401.1:c.230+13346A>G | ||
| NM_000038.5:c.6724A>G | NP_000029.2:p.Ser2242Gly | |
| NM_001127510.2:c.6724A>G | NP_001120982.1:p.Ser2242Gly | |
| NM_001127511.2:c.6670A>G | NP_001120983.2:p.Ser2224Gly | |
| NM_001354895.1:c.6724A>G | NP_001341824.1:p.Ser2242Gly | |
| NM_001354896.1:c.6778A>G | NP_001341825.1:p.Ser2260Gly | |
| NM_001354897.1:c.6754A>G | NP_001341826.1:p.Ser2252Gly | |
| NM_001354898.1:c.6649A>G | NP_001341827.1:p.Ser2217Gly | |
| NM_001354899.1:c.6640A>G | NP_001341828.1:p.Ser2214Gly | |
| NM_001354900.1:c.6601A>G | NP_001341829.1:p.Ser2201Gly | |
| NM_001354901.1:c.6547A>G | NP_001341830.1:p.Ser2183Gly | |
| NM_001354902.1:c.6451A>G | NP_001341831.1:p.Ser2151Gly | |
| NM_001354903.1:c.6421A>G | NP_001341832.1:p.Ser2141Gly | |
| NM_001354904.1:c.6346A>G | NP_001341833.1:p.Ser2116Gly | |
| NM_001354905.1:c.6244A>G | NP_001341834.1:p.Ser2082Gly | |
| NM_001354906.1:c.5875A>G | NP_001341835.1:p.Ser1959Gly | |
| NM_000038.6:c.6724A>G MANE Select | NP_000029.2:p.Ser2242Gly | |
| NM_001127510.3:c.6724A>G | NP_001120982.1:p.Ser2242Gly | |
| NM_001127511.3:c.6670A>G | NP_001120983.2:p.Ser2224Gly | |
| NM_001354895.2:c.6724A>G | NP_001341824.1:p.Ser2242Gly | |
| NM_001354896.2:c.6778A>G | NP_001341825.1:p.Ser2260Gly | |
| NM_001354897.2:c.6754A>G | NP_001341826.1:p.Ser2252Gly | |
| NM_001354898.2:c.6649A>G | NP_001341827.1:p.Ser2217Gly | |
| NM_001354899.2:c.6640A>G | NP_001341828.1:p.Ser2214Gly | |
| NM_001354900.2:c.6601A>G | NP_001341829.1:p.Ser2201Gly | |
| NM_001354901.2:c.6547A>G | NP_001341830.1:p.Ser2183Gly | |
| NM_001354902.2:c.6451A>G | NP_001341831.1:p.Ser2151Gly | |
| NM_001354903.2:c.6421A>G | NP_001341832.1:p.Ser2141Gly | |
| NM_001354904.2:c.6346A>G | NP_001341833.1:p.Ser2116Gly | |
| NM_001354905.2:c.6244A>G | NP_001341834.1:p.Ser2082Gly | |
| NM_001354906.2:c.5875A>G | NP_001341835.1:p.Ser1959Gly |