UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
dbSNP Id:
rs2076056441
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.9689038G>C , CM000665.2:g.9689038G>C | GRCh38 |
| NC_000003.11:g.9730722G>C , CM000665.1:g.9730722G>C | GRCh37 |
| NC_000003.10:g.9705722G>C | NCBI36 |
| NG_017068.1:g.44606G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296003.9:c.1389G>C MANE Select | ENSP00000296003.5:p.Glu463Asp | |
| ENST00000296003.8:c.1389G>C | ENSP00000296003.4:p.Glu463Asp | |
| ENST00000351233.9:c.1389G>C | ENSP00000334070.7:p.Glu463Asp | |
| ENST00000353332.9:c.1389G>C | ENSP00000323462.8:p.Glu463Asp | |
| ENST00000414996.1:c.*746G>C | ENSP00000392935.1:n.*746G>C | |
| ENST00000420925.5:c.651G>C | ENSP00000401993.1:p.Glu217Asp | |
| ENST00000447144.5:c.*362G>C | ENSP00000410761.1:n.*362G>C | |
| ENST00000617504.4:c.1387G>C | ENSP00000478236.1:p.Gly463Arg | |
| NM_001077525.2:c.1389G>C | NP_001070993.1:p.Glu463Asp | |
| NM_001077526.2:c.1389G>C | NP_001070994.1:p.Glu463Asp | |
| NM_022485.4:c.1389G>C | NP_071930.2:p.Glu463Asp | |
| XM_005265400.1:c.1314G>C | XP_005265457.1:p.Glu438Asp | |
| XM_011534012.1:c.1107G>C | XP_011532314.1:p.Glu369Asp | |
| XM_011534013.1:c.1026G>C | XP_011532315.1:p.Glu342Asp | |
| XR_245152.1:n.1513G>C | ||
| XM_005265400.2:c.1314G>C | XP_005265457.1:p.Glu438Asp | |
| XM_017007034.1:c.1458G>C | XP_016862523.1:p.Glu486Asp | |
| XM_017007035.1:c.1383G>C | XP_016862524.1:p.Glu461Asp | |
| XM_017007036.1:c.1458G>C | XP_016862525.1:p.Glu486Asp | |
| XM_017007037.1:c.1383G>C | XP_016862526.1:p.Glu461Asp | |
| XM_017007038.2:c.1314G>C | XP_016862527.1:p.Glu438Asp | |
| XM_017007039.1:c.1458G>C | XP_016862528.1:p.Glu486Asp | |
| XM_017007040.1:c.1383G>C | XP_016862529.1:p.Glu461Asp | |
| XM_017007041.1:c.1032G>C | XP_016862530.1:p.Glu344Asp | |
| XM_017007042.2:c.1314G>C | XP_016862531.1:p.Glu438Asp | |
| XM_017007043.1:c.1107G>C | XP_016862532.1:p.Glu369Asp | |
| XM_017007044.2:c.672G>C | XP_016862533.1:p.Glu224Asp | |
| XM_017007045.2:c.747G>C | XP_016862534.1:p.Glu249Asp | |
| XM_024453709.1:c.1026G>C | XP_024309477.1:p.Glu342Asp | |
| XM_024453710.1:c.747G>C | XP_024309478.1:p.Glu249Asp | |
| XR_001740231.1:n.1709G>C | ||
| XR_001740232.1:n.1635G>C | ||
| XR_001740233.2:n.1425G>C | ||
| XR_245152.2:n.1500G>C | ||
| NM_001077525.3:c.1389G>C MANE Select | NP_001070993.1:p.Glu463Asp | |
| NM_001077526.3:c.1389G>C | NP_001070994.1:p.Glu463Asp | |
| NM_022485.5:c.1389G>C | NP_071930.2:p.Glu463Asp | |
| NM_001400518.1:c.1458G>C | NP_001387447.1:p.Glu486Asp | |
| NM_001400519.1:c.1386G>C | NP_001387448.1:p.Glu462Asp | |
| NM_001400520.1:c.1314G>C | NP_001387449.1:p.Glu438Asp | |
| NM_001400521.1:c.1458G>C | NP_001387450.1:p.Glu486Asp | |
| NM_001400522.1:c.1386G>C | NP_001387451.1:p.Glu462Asp | |
| NM_001400523.1:c.1314G>C | NP_001387452.1:p.Glu438Asp | |
| NM_001400524.1:c.1143G>C | NP_001387453.1:p.Glu381Asp | |
| NM_001400525.1:c.1107G>C | NP_001387454.1:p.Glu369Asp | |
| NM_001400526.1:c.1383G>C | NP_001387455.1:p.Glu461Asp | |
| NM_001400527.1:c.1143G>C | NP_001387456.1:p.Glu381Asp | |
| NM_001400528.1:c.1314G>C | NP_001387457.1:p.Glu438Asp | |
| NM_001400529.1:c.1107G>C | NP_001387458.1:p.Glu369Asp | |
| NM_001400530.1:c.1143G>C | NP_001387459.1:p.Glu381Asp | |
| NM_001400531.1:c.1140G>C | NP_001387460.1:p.Glu380Asp | |
| NM_001400532.1:c.1107G>C | NP_001387461.1:p.Glu369Asp | |
| NM_001400533.1:c.747G>C | NP_001387462.1:p.Glu249Asp | |
| NM_001400534.1:c.747G>C | NP_001387463.1:p.Glu249Asp | |
| NM_001400535.1:c.747G>C | NP_001387464.1:p.Glu249Asp | |
| NM_001400536.1:c.1068G>C | NP_001387465.1:p.Glu356Asp | |
| NM_001400537.1:c.1032G>C | NP_001387466.1:p.Glu344Asp | |
| NM_001400538.1:c.672G>C | NP_001387467.1:p.Glu224Asp | |
| NM_001400539.1:c.747G>C | NP_001387468.1:p.Glu249Asp | |
| NM_001400540.1:c.747G>C | NP_001387469.1:p.Glu249Asp | |
| NM_001400541.1:c.747G>C | NP_001387470.1:p.Glu249Asp | |
| NM_001400542.1:c.747G>C | NP_001387471.1:p.Glu249Asp | |
| NM_001400543.1:c.747G>C | NP_001387472.1:p.Glu249Asp | |
| NM_001400544.1:c.528G>C | NP_001387473.1:p.Glu176Asp | |
| NM_001400545.1:c.747G>C | NP_001387474.1:p.Glu249Asp | |
| NM_001400546.1:c.747G>C | NP_001387475.1:p.Glu249Asp | |
| NM_001400547.1:c.528G>C | NP_001387476.1:p.Glu176Asp | |
| NM_001400548.1:c.528G>C | NP_001387477.1:p.Glu176Asp | |
| NM_001400549.1:c.672G>C | NP_001387478.1:p.Glu224Asp | |
| NM_001400550.1:c.528G>C | NP_001387479.1:p.Glu176Asp | |
| NR_174503.1:n.1393G>C | ||
| NR_174504.1:n.1468G>C | ||
| NR_174505.1:n.1076G>C | ||
| NR_174506.1:n.1256G>C | ||
| NR_174507.1:n.1322G>C | ||
| NR_174508.1:n.1322G>C | ||
| NR_174509.1:n.1222G>C | ||
| NR_174510.1:n.1319G>C | ||
| NR_174511.1:n.1392G>C |