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
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.73219231C>G , CM000676.2:g.73219231C>G | GRCh38 |
| NC_000014.8:g.73685939C>G , CM000676.1:g.73685939C>G | GRCh37 |
| NC_000014.7:g.72755692C>G | NCBI36 |
| NG_007386.2:g.87761C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553599.6:c.1334C>G | ENSP00000452477.2:p.Thr445Arg | |
| ENST00000554131.6:c.1346C>G | ENSP00000451915.2:p.Thr449Arg | |
| ENST00000554995.2:n.2096C>G | ||
| ENST00000555386.6:c.*301C>G | ENSP00000450845.1:n.*301C>G | |
| ENST00000556066.2:n.1772C>G | ||
| ENST00000556951.6:c.1334C>G | ENSP00000450551.2:p.Thr445Arg | |
| ENST00000557293.6:c.1226C>G | ENSP00000451880.2:p.Thr409Arg | |
| ENST00000559361.6:c.*1290C>G | ENSP00000454156.1:n.*1290C>G | |
| ENST00000697912.1:c.*534C>G | ENSP00000513477.1:n.*534C>G | |
| ENST00000697913.1:n.6896C>G | ||
| ENST00000697915.1:n.703C>G | ||
| ENST00000700265.1:c.1334C>G | ENSP00000514901.1:p.Thr445Arg | |
| ENST00000700266.1:c.*1558C>G | ENSP00000514902.1:n.*1558C>G | |
| ENST00000700267.1:c.1346C>G | ENSP00000514903.1:p.Thr449Arg | |
| ENST00000700268.1:c.1346C>G | ENSP00000514904.1:p.Thr449Arg | |
| ENST00000700269.1:c.1346C>G | ENSP00000514905.1:p.Thr449Arg | |
| ENST00000700271.1:c.1160C>G | ENSP00000514906.1:p.Thr387Arg | |
| ENST00000700272.1:c.*1290C>G | ENSP00000514907.1:n.*1290C>G | |
| ENST00000700273.1:c.1334C>G | ENSP00000514908.1:p.Thr445Arg | |
| ENST00000700302.1:c.*162C>G | ENSP00000514929.1:n.*162C>G | |
| ENST00000700303.1:c.*1008C>G | ENSP00000514930.1:n.*1008C>G | |
| ENST00000700304.1:c.*1290C>G | ENSP00000514931.1:n.*1290C>G | |
| ENST00000700305.1:c.*904C>G | ENSP00000514932.1:n.*904C>G | |
| ENST00000700306.1:c.1346C>G | ENSP00000514933.1:p.Thr449Arg | |
| ENST00000700307.1:c.1247C>G | ENSP00000514934.1:p.Thr416Arg | |
| ENST00000700308.1:c.*1290C>G | ENSP00000514935.1:n.*1290C>G | |
| ENST00000700309.1:c.*1435C>G | ENSP00000514936.1:n.*1435C>G | |
| ENST00000700310.1:c.*301C>G | ENSP00000514937.1:n.*301C>G | |
| ENST00000700311.1:c.*162C>G | ENSP00000514938.1:n.*162C>G | |
| ENST00000700312.1:c.1097C>G | ENSP00000514939.1:p.Thr366Arg | |
| ENST00000700313.1:c.1334C>G | ENSP00000514940.1:p.Thr445Arg | |
| ENST00000700314.1:c.*1285C>G | ENSP00000514941.1:n.*1285C>G | |
| ENST00000700315.1:c.*904C>G | ENSP00000514942.1:n.*904C>G | |
| ENST00000700316.1:c.*1126C>G | ENSP00000514943.1:n.*1126C>G | |
| ENST00000700317.1:c.1346C>G | ENSP00000514944.1:p.Thr449Arg | |
| ENST00000700318.1:c.*1008C>G | ENSP00000514945.1:n.*1008C>G | |
| ENST00000700319.1:c.*786C>G | ENSP00000514946.1:n.*786C>G | |
| ENST00000700320.1:c.1373C>G | ENSP00000514947.1:p.Thr458Arg | |
| ENST00000700321.1:c.1346C>G | ENSP00000514948.1:p.Thr449Arg | |
| ENST00000700322.1:c.1334C>G | ENSP00000514949.1:p.Thr445Arg | |
| ENST00000700323.1:c.1346C>G | ENSP00000514950.1:p.Thr449Arg | |
| ENST00000700324.1:c.1334C>G | ENSP00000514951.1:p.Thr445Arg | |
| ENST00000700375.1:c.1346C>G | ENSP00000514966.1:p.Thr449Arg | |
| ENST00000700377.1:c.*814C>G | ENSP00000514967.1:n.*814C>G | |
| ENST00000700378.1:c.1346C>G | ENSP00000514968.1:p.Thr449Arg | |
| ENST00000700379.1:n.1744C>G | ||
| ENST00000700389.1:c.1334C>G | ENSP00000514970.1:p.Thr445Arg | |
| ENST00000700390.1:n.3057C>G | ||
| ENST00000700391.1:n.557C>G | ||
| ENST00000700404.1:n.2345C>G | ||
| ENST00000700436.1:c.*301C>G | ENSP00000514987.1:n.*301C>G | |
| ENST00000700437.1:c.1097C>G | ENSP00000514988.1:p.Thr366Arg | |
| ENST00000700468.1:c.1235C>G | ENSP00000515001.1:p.Thr412Arg | |
| ENST00000700469.1:c.1334C>G | ENSP00000515002.1:p.Thr445Arg | |
| ENST00000324501.10:c.1346C>G MANE Select | ENSP00000326366.5:p.Thr449Arg | |
| ENST00000324501.9:c.1346C>G | ENSP00000326366.5:p.Thr449Arg | |
| ENST00000357710.8:c.1334C>G | ENSP00000350342.4:p.Thr445Arg | |
| ENST00000394164.5:c.1334C>G | ENSP00000377719.1:p.Thr445Arg | |
| ENST00000406768.1:c.1070C>G | ENSP00000385948.1:p.Thr357Arg | |
| ENST00000555386.5:c.1426C>G | ENSP00000450845.1:n.1426C>G | |
| ENST00000555867.1:n.711C>G | ||
| ENST00000557511.5:c.1172C>G | ENSP00000451429.1:p.Thr391Arg | |
| NM_000021.3:c.1346C>G | NP_000012.1:p.Thr449Arg | |
| NM_007318.2:c.1334C>G | NP_015557.2:p.Thr445Arg | |
| XM_005267864.1:c.1346C>G | XP_005267921.1:p.Thr449Arg | |
| XM_005267866.1:c.1334C>G | XP_005267923.1:p.Thr445Arg | |
| XM_011536971.1:c.1346C>G | XP_011535273.1:p.Thr449Arg | |
| XM_011536972.1:c.1346C>G | XP_011535274.1:p.Thr449Arg | |
| XM_011536973.1:c.1334C>G | XP_011535275.1:p.Thr445Arg | |
| XM_011536974.1:c.1334C>G | XP_011535276.1:p.Thr445Arg | |
| XM_005267864.3:c.1346C>G | XP_005267921.1:p.Thr449Arg | |
| XM_005267866.2:c.1334C>G | XP_005267923.1:p.Thr445Arg | |
| XM_011536972.2:c.1346C>G | XP_011535274.1:p.Thr449Arg | |
| XM_011536973.2:c.1334C>G | XP_011535275.1:p.Thr445Arg | |
| XM_011536974.2:c.1334C>G | XP_011535276.1:p.Thr445Arg | |
| NM_000021.4:c.1346C>G MANE Select | NP_000012.1:p.Thr449Arg | |
| NM_007318.3:c.1334C>G | NP_015557.2:p.Thr445Arg |