Linked Data
ClinVar Variation Id:
411553
ClinVar RCV Id:
RCV003766600
dbSNP Id:
rs1060503370
gnomAD v4:
5-112842507-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112842507A>G , CM000667.2:g.112842507A>G | GRCh38 |
| NC_000005.9:g.112178204A>G , CM000667.1:g.112178204A>G | GRCh37 |
| NC_000005.8:g.112206103A>G | NCBI36 |
| NG_008481.4:g.154987A>G , LRG_130:g.154987A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.6967A>G | ENSP00000473355.2:p.Arg2323Gly | |
| ENST00000505350.2:c.*6919A>G | ENSP00000481752.1:n.*6919A>G | |
| ENST00000507379.6:c.6859A>G | ENSP00000423224.2:p.Arg2287Gly | |
| ENST00000509732.6:c.6913A>G | ENSP00000426541.2:p.Arg2305Gly | |
| ENST00000512211.7:c.6913A>G | ENSP00000423828.3:p.Arg2305Gly | |
| ENST00000257430.9:c.6913A>G MANE Select | ENSP00000257430.4:p.Arg2305Gly | |
| ENST00000257430.8:c.6913A>G | ENSP00000257430.4:p.Arg2305Gly | |
| ENST00000508376.6:c.6913A>G | ENSP00000427089.2:p.Arg2305Gly | |
| ENST00000508624.5:c.*6235A>G | ENSP00000424265.1:n.*6235A>G | |
| ENST00000520401.1:c.230+13535A>G | ||
| NM_000038.5:c.6913A>G | NP_000029.2:p.Arg2305Gly | |
| NM_001127510.2:c.6913A>G | NP_001120982.1:p.Arg2305Gly | |
| NM_001127511.2:c.6859A>G | NP_001120983.2:p.Arg2287Gly | |
| NM_001354895.1:c.6913A>G | NP_001341824.1:p.Arg2305Gly | |
| NM_001354896.1:c.6967A>G | NP_001341825.1:p.Arg2323Gly | |
| NM_001354897.1:c.6943A>G | NP_001341826.1:p.Arg2315Gly | |
| NM_001354898.1:c.6838A>G | NP_001341827.1:p.Arg2280Gly | |
| NM_001354899.1:c.6829A>G | NP_001341828.1:p.Arg2277Gly | |
| NM_001354900.1:c.6790A>G | NP_001341829.1:p.Arg2264Gly | |
| NM_001354901.1:c.6736A>G | NP_001341830.1:p.Arg2246Gly | |
| NM_001354902.1:c.6640A>G | NP_001341831.1:p.Arg2214Gly | |
| NM_001354903.1:c.6610A>G | NP_001341832.1:p.Arg2204Gly | |
| NM_001354904.1:c.6535A>G | NP_001341833.1:p.Arg2179Gly | |
| NM_001354905.1:c.6433A>G | NP_001341834.1:p.Arg2145Gly | |
| NM_001354906.1:c.6064A>G | NP_001341835.1:p.Arg2022Gly | |
| NM_000038.6:c.6913A>G MANE Select | NP_000029.2:p.Arg2305Gly | |
| NM_001127510.3:c.6913A>G | NP_001120982.1:p.Arg2305Gly | |
| NM_001127511.3:c.6859A>G | NP_001120983.2:p.Arg2287Gly | |
| NM_001354895.2:c.6913A>G | NP_001341824.1:p.Arg2305Gly | |
| NM_001354896.2:c.6967A>G | NP_001341825.1:p.Arg2323Gly | |
| NM_001354897.2:c.6943A>G | NP_001341826.1:p.Arg2315Gly | |
| NM_001354898.2:c.6838A>G | NP_001341827.1:p.Arg2280Gly | |
| NM_001354899.2:c.6829A>G | NP_001341828.1:p.Arg2277Gly | |
| NM_001354900.2:c.6790A>G | NP_001341829.1:p.Arg2264Gly | |
| NM_001354901.2:c.6736A>G | NP_001341830.1:p.Arg2246Gly | |
| NM_001354902.2:c.6640A>G | NP_001341831.1:p.Arg2214Gly | |
| NM_001354903.2:c.6610A>G | NP_001341832.1:p.Arg2204Gly | |
| NM_001354904.2:c.6535A>G | NP_001341833.1:p.Arg2179Gly | |
| NM_001354905.2:c.6433A>G | NP_001341834.1:p.Arg2145Gly | |
| NM_001354906.2:c.6064A>G | NP_001341835.1:p.Arg2022Gly |